Latest Blog Posts

Subscribe to Latest Blog Posts feed
Updated: 3 hours 44 min ago

CChIPS’ Annual Report Highlights Consortium’s Unique Synergy

Tue, 11/28/2017 - 06:00
Center for Injury Research and Prevention, Center for Child Injury Prevention Studies

The rapid translation of research results into new products, policies, and programs is a key part of the Center for Child Injury Prevention Studies’ (CChIPS) mission to spur innovations that keep children safe and healthy.

Each year, the Industry Advisory Board (IAB) of the CChIPS funds a portfolio of child safety-focused research projects. During the 2016-2017 CChIPS project year, the IAB funded 13 completed projects, spanning areas of focus including child-restraint design and performance, consumer/driver behavior, crash avoidance and autonomous vehicles, vehicle restraint performance, and crash test dummy biofidelity. Snapshots of these projects are available in the newly released 2017 CChIPS Annual Report: “Safe and Sound.”

For example, Kristy Arbogast, PhD, co-scientific director of the Center for Injury Research and Prevention (CIRP),is the principal investigator of a multi-year project that involves testing different features of forward-facing child-restraint systems (car seats) and how each provides protection in oblique impacts. This focus is driven by interest in protection in side impact crashes; in the real world, those crashes are more likely oblique than directly lateral. Now in its third year, the study focused on examining the performance of the three different lower attachment methods by which car seats are fixed to the vehicle anchor points without the use of vehicle seat belts. One important finding across all three years of research is that the child seat kinematics were improved with the use of a tether.

In another CChIPS study, CIRP research scientists Helen Loeb, PhD, and Aditya Belwadi, PhD, used CHOP’s advanced driving simulator to assess drivers’ interactions with self-driving technology. Currently, there are many unknowns about how the transition is made from manual mode to autonomous mode and back to manual mode. A pilot study with a small sample size of eight teens and four adults showed some surprising early results: The female participants were better able to avoid crashing than were the male participants, and more teen participants experienced simulated crashes than did adult participants.

Full abstracts for each project are available on the CChIPS website. The report also covers how CChIPS and their partner research site at The Ohio State University approach return on investment, supplemental research projects, and training future industry scientists. It’s evident how passionate CChIPS scientists are about this work and how much they value the input and expertise of their industry mentors on the IAB. This synergy is what makes CChIPS such a unique consortium.

Click here to download the 2017 CChIPS Annual Report>.

Tags: Center for Child Injury Prevention Studies, CChIPS, child safety, child-restraint systems, driving simulator, self-driving technology, Kristy Arbogast, Helen Loeb, Aditya Belwadi, Center for Injury Research and Prevention, CIRP, Ohio State University

A Heartfelt Thank You

Wed, 11/22/2017 - 06:00
Children's Hospital of Philadelphia Research Institute

Our days and weeks are packed – sometimes to the point of overflowing – with projects, meetings, and the regular day-to-day work that propels our discoveries and supports our investigators and their teams.

In the midst of being busy today and planning for tomorrow, it’s important for me to take a moment to express my gratitude to everyone for what they do to support the CHOP Research Institute.

While funding is certainly a critical factor in our flourishing research program, it has little significance without you – our innovative investigators and research teams, our dedicated support staff, our generous donors, and our inspiring patients and families. I am thankful for each and every one of you for your tireless support. Regardless of how you support the Research Institute – through your work, generosity, advocacy, and goodwill – please know that we could not accomplish what we do without you.

It is because of you that we bring breakthroughs every day to our patients and families.

It is because of you that children across the globe enjoy healthier lives through new treatment approaches and therapeutics.

It is because of you that we are the preeminent pediatric research institution in the world, sharing our wealth of knowledge and innovation with the scientific community at large so through collaboration we can tackle some of the most challenging issues affecting children’s health.

As you gather this week with friends and family to celebrate Thanksgiving (and Friendsgiving for some!), know how truly and deeply grateful I am for all that you do. And I feel as privileged and honored as ever to lead the CHOP Research Institute as we continue to advance the health of children by turning scientific discovery into medical innovation.

I wish you all an enjoyable and peaceful holiday!

Bryan

Tags: breakthroughs, Thanksgiving, research

Researchers Get to the Root of Hunger in Primary Care

Mon, 11/20/2017 - 06:00
Healthy Weight Program, Perelman School of Medicine, PolicyLab, Department of Biomedical and Health Informatics

Around seven years ago during a well visit at Children’s Hospital of Philadelphia, a 12-year-old boy told Saba Khan, MD, an attending physician at CHOP, that there was one problem she could not fix. Intrigued, Dr. Khan asked him to explain further. At first hesitant, the young man finally explained what he meant. He had a pain in his belly that never went away, and he knew exactly what that pain was: Hunger. “I’m always hungry,” he said to Dr. Khan.

Dr. Khan was floored. At the time, she was unfamiliar about how to address the issue of food insecurity because she had not yet encountered it in primary care practice.

“It was shocking and upsetting, and I didn’t have an answer for him,” said Dr. Khan, who is now the medical director of the Healthy Weight Program at CHOP and an assistant professor of Pediatrics at Perelman School of Medicine at the University of Pennsylvania. “I made sure that was the last day I would remain uninformed about what I could possibly do to help him and other children like him.”

Over the next few years, Dr. Khan connected with fellow researchers at CHOP who shared her goal of addressing the sensitive but vital question of hunger in pediatric practice. Since her first encounter with the patient nearly a decade ago, Dr. Khan has seen research regarding food insecurity in healthcare settings begin to flourish.

Defined by the U.S Department of Agriculture as the limited or uncertain availability of nutritious and safe foods, food insecurity (more plainly known as “hunger,” Dr. Khan said) affects 49.1 million people, including 15.8 million children in America. With such a startling number, CHOP has made it a top priority to get to the root of hunger through a number of different initiatives. Along with robust research investigations conducted by PolicyLab at CHOP, Dr. Khan has integrated food insecurity screenings into the Healthy Weight Program, an initiative to advance the prevention and treatment of childhood obesity. She is also gearing up for yet another exciting new initiative to launch in March: a CHOP food pharmacy designed to give children and families access to adequately nutritious food.

Ongoing Research: How Should We Screen for Food Insecurity?

Well before the American Academy of Pediatrics (AAP) announced a policy recommending the universal screening for food insecurity for all children in October of 2015, Dr. Khan said that her colleagues in the department of Biomedical and Health Informatics and PolicyLab were already screening children for food insecurity by embedding a screening tool into EPIC, CHOP’s electronic health record. The screening tool consisted of two questions for families, and a positive response to either question indicated that the family or individual was in a “food-scarce” state.

Since then, the data, which EPIC continues to gather, has helped to inform a number of PolicyLab studies. In initial research that used screening tools during three-year well visits at urban care settings, Dr. Khan and her colleagues discovered that while food insecurity rates in Philadelphia remain at a discouraging 20 to 22 percent range, the researchers were only finding their number at 11 to 13 percent.

“We started to talk about whether it was the way we’re asking about the issue, or is it the people who are asking the issue, or something else,” Dr. Khan said. “That led to other work that was done.”

Danielle Cullen, MD, a pediatric emergency medicine fellow at CHOP, began to conduct research into screening for food insecurity in the emergency department (ED). Meanwhile, Deepak Palakshappa, MD, a former PolicyLab faculty member and current assistant professor at Wake Forest School of Medicine, began looking into food insecurity and poverty in suburban primary care practices.

Collectively, the researchers learned even more lessons that could help to shape interventions. First, there is no “one size fits all” modality for food insecurity screening that works for all families – whether it be screening done on paper, face-to-face, or on an Ipad. Thus, providers should be mindful of the way the question was asked, so that families felt comfortable enough to respond truthfully.

“Disclosing that you can’t consistently buy enough food to feed your family is demoralizing, and sometimes families even fear involvement of child protective services,” wrote Drs. Cullen and Palakshappa in a blog post. “We must be aware of these fears, and protect families against perceived repercussions.”

Furthermore, screening shouldn’t just occur in primary care practice alone: Data shows that individual patients may feel more comfortable talking about their hunger in different clinical environments depending on their situation. In fact, a 32.4 percent rate of food insecurity was reported in the ED – much higher than the 2.8 percent of families who screened positive in suburban primary care practices.

The PolicyLab researchers also found that most families nevertheless appreciated the screening. When Dr. Palakshappa and his team asked parents in suburban primary care practices how it felt to be screened for food insecurity, the parents admitted to feelings of shame and helplessness, but some of their frustration was alleviated by discussing food insecurity with a trusted clinician.

Their research also suggests that the solution to helping food-insecure families differs based on geography along with a number of other factors. While urban families had access to government programs providing access to adequate food, suburban families often did not have the same support systems in place.

“Now I think the main ask is what do we do?” Dr. Khan said. “What is the band-aid solution, because we found that we couldn’t do as much for families in the suburban settings.”

Current Initiatives: Going from Hungry to Healthy

In her work with the Healthy Weight Program, Dr. Khan does her best to address food insecurity by making sure that clinicians ask about food access issues at every opportunity. While the link between these conditions and food scarcity may not seem obvious at first, Dr. Khan says it is nonetheless significant: Many children struggling with obesity often do so because they lack access to nutritious food, but they have an excess of junk food.

“All the wrong food excess will lead to obesity,” Dr. Khan said. “Some children start off being underweight but within several years become overweight because they only have access to the wrong food sources and also do not have access to a stable safe place to play or exercise.”

In March, Dr. Khan anticipates the launch of a food pharmacy based at the CHOP Healthy Weight Clinic – a first-time specialty site with contributions from outside donors. Along with providing patients from the Healthy Weight Program and CHOP urban care sites with healthy food, Dr. Khan said the pharmacy may become more of a “pantry” that contains educational resources for families to look into and learn.

“It’s definitely a work-in-progress, but I think that it’s something that’s definitely evolved,” Dr. Khan said. “We have already been giving food out to families, but now we want to attach the screening piece to it and also come up with a dynamic system to see how families benefit from the pharmacy and whether they can give back in its upkeep.”

Dr. Khan expects more information and research studies about the food pharmacy to come out next year, and in the meantime, she looks forward to the many initiatives that have emerged in the last decade.

“All of this work is starting to map out a culture of wellness, and we feel that the pharmacy could really be the epicenter of it,” she said.

Tags: Hunger, food insecurity, screening, primary care practice, Saba Khan, Healthy Weight Program, PolicyLab, Deepak Palakshappa, Danielle Cullen, emergency department, suburban primary care practice, food pharmacy, Wake Forest School of Medicine, electronic health record

Artful Thinking, Teledermatology App, Genetic Mutations in Hearing Loss, Dr. Vinay Nadkarni

Fri, 11/17/2017 - 06:00
Center for Injury Research and Prevention, Division of Ophthalmology, Division of Dermatology, Roberts Individualized Medical Genetics Center

Art meets medicine and cell phones support skin diagnoses in this week’s roundup of research news at Children’s Hospital of Philadelphia, as our latest headlines show science can find the best partners in unlikely places. Along with a creative study on the power of art observation for ophthalmology led by Gil Binenbaum, MD, MSCE, pediatric eye surgeon at CHOP, we also cover updates from researchers developing a teledermatology app, learn about novel pathways in the gene mutations that cause hearing loss, and congratulate Vinay Nadkarni, MD, on his latest honor from the American Heart Association.

Observing Art Helps Med Students Observe in Clinical Settings

Talking about a Picasso painting might not seem like a typical med school assignment, but new research published by CHOP and the University of Pennsylvania suggests that observing art could help transform the way future doctors make observations in the clinic. CBS Philly covered the event with a video news segment aired on CBS3.

In the study published in Ophthalmology, researchers collaborated with educators at the Philadelphia Museum of Art to study whether six 1½ -hour art observation courses at the Museum would develop observational abilities that translate into improved clinical effectiveness, empathy, and patient care. Building on previous studies, the researchers assigned 36 first-year medical students to either the “Artful Thinking” course or a control group who didn’t take the formal art training. Both groups completed an observational skills test before and after the study that involved description testing as well as emotional recognition testing of retinal and facial disease photos.

For the art training course, professional art educators asked students to observe, describe, and interpret various works of art, with an emphasis on observation and introspection before making a final interpretation. They held sessions in front of works of art, group discussions, and training in visual arts vocabulary. The approach encouraged creative questioning, reasoning, and perspective taking. Results showed that students who took the training showed a significant improvement in their observational skills of retinal and facial disease compared to the controls. In a follow-up questionnaire, the students also reported that they had already started to apply the skills used in the course in clinically meaningful ways, and the success of the study has led the University of Pennsylvania’s Perelman School of Medicine to offer the Philadelphia Museum of Art course to first-year medical students in the fall 2017 semester.

“Art training could be helpful across many specialties, especially ones like ophthalmology, dermatology, and radiology, where diagnosis and treatments plans are based primarily on direct observation,” said Dr. Gil Binenbaum of the division of Ophthalmology at CHOP and senior author of the study.

Learn more in the CHOP press release and be sure to check out CBS Philly’s video coverage of the research.

Parent-Submitted Smartphone Pictures Facilitate Reliable Skin Condition Diagnosis

Earlier this year, we took a snapshot of a mobile app developed by CHOP researchers that allows dermatologists to diagnose a skin condition based on a photograph and several responses to a list of questions. In that pilot study of 198 cases, results showed that the telemedicine technology was acceptable, easy to use, and expedited care. With pediatric dermatologists in short supply (fewer than 300 board-certified physicians serve nearly 75 million children in the U.S.), the app has the potential to cut appointment wait times, which often exceed several months. This week, the research team led by Patrick McMahon, MD, pediatric dermatologist at CHOP, published the next piece to their development of the app in JAMA Dermatology. In this particular study, they investigated the accuracy of teledermatology using photographs taken by parents.

Forty families participated in the study between March and September of 2016. Comparing diagnoses made based on photographs and those made during in-person examinations, the results showed that parents could indeed take photographs of their child’s skin condition on a smartphone camera and receive a reliable diagnosis. Of the 87 submitted images, 83 percent of the time, the photograph-based diagnosis agreed with the in-person diagnosis.

“While many children’s skin conditions can be handled without input from a pediatric dermatologist, the national shortage of specialists is a known barrier to accessing care,” said Dr. McMahon in a press statement. “Our findings suggest that telemedicine could improve access for patient families who have geographic, scheduling or financial limitations, as well as reducing wait times.”

Learn more in the press release.

Genetics Experts Reveal Early Events in Childhood Hearing Loss

The family of two sibling patients at CHOP who use cochlear implants – a device that replaces the inner ear’s damaged functions – now know more about the biological mechanisms behind the mutation that caused the sibling’s hearing loss thanks to novel research led by the director of CHOP’s Genetics of Hearing Loss Clinic.

Ian D. Krantz, MD, who is also director of the Roberts Individualized Medical Genetics Center at CHOP, and a team of investigators had previously identified mutations in the ESRP1 gene as the culprit in the sibling’s condition, but they did not know what biological pathways the mutations acted upon to cause hearing loss. In the current study, published in Developmental Cell, Dr. Krantz and a team of researchers analyzed the patient’s cells and performed studies in mutant mice. They discovered that the gene mutations led to disruptions in proteins in the cochlea – the part of the inner ear that turns sound waves into electrical signals sent to the brain. The defective proteins damaged the cochlea’s signal-transmitting function. This developmental pathway has not been implicated in a human developmental condition until this study.

“Our hope is that down the road, our understanding of this critical molecular pathway will lead to novel treatments for children with hearing loss,” stated Dr. Krantz in a press release.

Dr. Vinay Nardkarni Receives AHA 2017 Award for Lifetime Achievement in Cardiac Resuscitation Science

This past week, the American Heart Association honored Vinay Nadkarni, MD, with their 2017 Award for Lifetime Achievement in Cardiac Resuscitation Science at its annual Resuscitation Science Symposium held in Anaheim, Calif. We wish the warmest congratulations to Dr. Nadkarni, who is a critical care physician at CHOP as well as medical and research director of our Center for Simulation, Advanced Education, and Innovation. The AHA awards the honor every year to recognize scientists who have made outstanding contributions in cardiac and trauma science.

Dr. Nadkarni’s work in clinical, laboratory, and simulation-based research is paving the way for next-generation resuscitation care. He has authored more than 400 peer-reviewed manuscripts and 35 book chapters related to the practice of cardiopulmonary resuscitation (CPR), critical care, and resuscitation science. Along with conducting a number of collaborative multi-center National Institutes of Health research grants, Dr. Nadnarkni was the founding pediatric member of the AHA’s National Registry of CPR, an initiative to collect resuscitation data from hospitals across the nation and create evidence-based guidelines for inpatient CPR. The National Registry of CPR formed the foundation for the AHA’s collaborative “Get With the GuidelinesÒ-Resuscitation” program, the data from which helped inform one of Dr. Nadkarni’s latest publications. In it, he and his colleagues reported the results from a large multicenter study assessing the association between acute respiratory compromise among children, cardiac arrest, and overall in-hospital mortality.

Learn more about Dr. Nadkarni's work with the American Heart Association in our March 2016 story in Bench to Bedside.

ICYMI

Recently on Cornerstone, we took a snapshot of research that investigated whether mindfulness could help mothers of babies with heart conditions as a stress-technique; met our November Research Hero for muscular dystrophy, Antonio Rosato; and welcomed a guest blog from Ayana Bradshaw, MPH, administrative director for the Center for Injury Research and Prevention about this month’s Community-Driven Research Day.

Catch up on our headlines from our Nov.3 edition of In the News:

  • New Research Associates CHD Patients’ Weight with Post-Surgery Outcomes
  • Distinctions in Tumor Biology Provide Insights for Precision Treatments
  • Dr. Forrest Co-Investigator for New Clinical Trials Network
  • Dr. Amy Goldstein Helps Establish New Mitochondrial Disease Guidelines

Keep up with our news, stories, and updates in real time by following us on Twitter, Facebook, LinkedIn, or Instagram. Or subscribe to our newsletter to get an email sent every other Friday by signing up here, or via the box on the upper right of this page.

Tags: Artful thinking, medical training, Philadelphia Museum of Art, Gil Binenbaum, ophthalmology, CBS Philly, CBS3, art observation, Perelman School of Medicine, University of Pennsylvania, Division of Ophthalmology, JAMA Dermatology, Patrick McMahon, dermatology, mHealth, mobile app, smartphones, teledermatology, telehealth, telemedicine, Ian D. Krantz, hearing loss, cochlea, Developmental Cell, Roberts Individualized Medical Genetics Center, Genetics of Hearing Loss Clinic, American Heart Association, Vinay Nadkarni, Award for Lifetime Achievement in Cardiac Resuscitation Science, National Registry of CPR, Get With the Guidelines-Resuscitation program

Powerful Collaborations Coalesce When the Research World Meets the Real World

Wed, 11/15/2017 - 05:45
Center for Injury Research and Prevention, Violence Prevention Initiative

Editor’s Note: Our guest blogger, Ayana Bradshaw, MPH, is the administrative director for the Center for Injury Research and Prevention and the Violence Prevention Initiative at Children’s Hospital in Philadelphia, serving in this role for the past five years. She joined CIRP in 2006 as the center coordinator for the Philadelphia Collaborative Violence Prevention Center where she was responsible for the day-to-day operations of a Centers for Disease Control and Prevention violence prevention program.

What happens when you have community-based organizations share their expertise and bring their research questions to academic researchers throughout Philadelphia? Ideas are discussed, partnerships are formed, and collaborative research projects are launched. These are the goals of the annual Community-Driven Research Day (CDRD), now in its eighth year. 

Co-organized by CHOP, the event provides a unique forum for researchers interested in community-based participatory research, which includes the basic tenet that both community and research partners are involved in all phases of research. This approach allows community capacity and related opportunities to be developed and sustained.

CDRD aims to generate collaborations between community organizations and academic researchers who can uniquely benefit from their shared capabilities and perspectives. Following the event, pilot grants are offered to jumpstart these collaborations, and many times they have resulted in successful long-term partnerships.

For example, in 2015 pilot funds supported a joint project between CDRD presenter, Camden Area Health Education Center, and Alexis Roth, PhD, MPH, assistant professor of Community Health and Prevention in the Dornsife School of Public Health at Drexel University. The research conducted during this pilot stage resulted in an American Sexually Transmitted Diseases Association's Career Development Award that will continue to support the work between these two entities in the prevention of HIV in women who are intravenous drug users.

Over the past several years, CDRD evolved based on work that was conducted through a multi-institutional Centers for Disease Control and Prevention funded project: the Philadelphia Collaborative Violence Prevention Center (PCVPC). PCVPC was founded on the principle that community members are integral to every aspect of research from the development of the research questions to the dissemination of the results back into the community.

Members of PCVPC, including myself, visited Johns Hopkins University, where an event similar to CDRD had taken place. We decided to bring this concept to the Philadelphia community, and CHOP worked together with Temple University, the University of Pennsylvania, and Drexel University to host their first CDRD event in 2009.  Now supported by the Violence Prevention Initiative at CHOP, this unique opportunity provided a space in which community organizations seeking to find academic research partners with similar research questions could do so with ease. And academic researchers who were truly dedicated to encouraging community participation in their research activities could meet community organizations that worked directly on the ground.   

Although funding for PCVPC ended in 2011, I have continued to be committed to helping to spearhead this event because I truly believe in the value of having the community voice embedded in all aspects of research. The sponsoring institutions, now also including Thomas Jefferson University, have all demonstrated their commitment to community-based participatory research methods through their consecutive sponsorship of both the CDRD event and pilot funds offered each year.

Over the past eight years we have had well over 100 community-based organizations present at CDRD, and each year I am impressed by the rich wisdom that comes from these organizations that are working hand-in-hand with the Philadelphia community. By having community organizations representing the populations whom they serve stand as equal partners with academic researchers who are conducting research in these communities, the outcomes are beneficial to all involved.

So far, over 35 collaborative research projects have been funded with community partners such as Lutheran Settlement House (CHOP), New Kensington Community Development Corporation (Thomas Jefferson University), and Hepatitis B Foundation (University of Pennsylvania).

During this year’s CDRD, community-based organizations and community groups will present research questions that they are interested in answering through a poster presentation based on the theme, “Local Solutions to Health Challenges.” The event will feature keynote speaker Amy Carroll-Scott, PhD, MPH, assistant professor of Community Health and Prevention in the Drexel Dornsife School of Public Health, who will highlight the benefits of community and academic partnerships, including her success in the use of community-based participatory research methods. 

The 2017/2018 CDRD will be held at Temple University Tuesday, Dec. 5, 2017.

For more information and to register to attend (deadline Nov. 21), click here.

Strengthening Duchenne Muscular Dystrophy Research: Antonio Rosato

Mon, 11/13/2017 - 06:00
Research Heroes, Children's Hospital of Philadelphia

From the time Antonio Rosato was diagnosed with Duchenne muscular dystrophy (DMD) at age 4½, his family was eager for him to participate in a clinical research trial. They wanted to give him access to the latest advances in pharmacological and disease management approaches for DMD, an opportunity that Antonio’s uncle Artie, who was diagnosed with the same neuromuscular disease four decades ago, did not have.

Research for DMD has come a long way since then, and novel drug therapeutics are beginning to become available for patients with the progressive disease that causes the muscles in the body to become very weak. A child is usually diagnosed with DMD between the ages of 3 and 5, when he starts having difficulty running and jumping. As symptoms progress, he may lose walking ability and is usually wheelchair-bound by his early teen years.

Ongoing research is helping to find new drug therapies to help build and strengthen DMD muscles, prevent other disease-related complications such scoliosis and heart and breathing problems, and improve the overall quality of life for children with DMD.

DMD is a genetic disorder caused by an absence of dystrophin, which is part of a group of proteins that work together to strengthen muscle fibers. In Antonio’s case, the genetic mutation was inherited, but the disease also can occur due to random spontaneous genetic mutations. The tricky thing with DMD is that, despite progress toward a proven treatment, some research therapies work on specific types of DMD — so one treatment may work on one child, but it will be ineffective in another — while others could be of benefit to all people with Duchenne regardless of where exactly in the genetic code the mutation is located.

Antonio and his family, who live in Sicklerville, N.J., had to wait a few years until he was old enough to be eligible to enroll in a clinical trial that is investigating a new drug strategy for DMD. When they got the phone call inviting them to come to Children’s Hospital of Philadelphia to see if he qualified as a study participant, “It felt like we had won the lottery, knowing that he could take part in something that could change the lives of so many people and his too,” said Antonio’s grandmother, Deb Foster.

Foster has had a close connection for many years with CHOP and its medical team, who helped to manage her brother Artie’s DMD throughout his childhood. Artie is now 46 and has been married for 22 years.

“He is without a doubt a miracle and the main reason Antonio wanted to be in the trial,” Foster said.

In order to qualify for the trial, Antonio first needed to go through a rigorous day of testing. At one point, Antonio, who had just turned 7 was getting tired and squirmy during a magnetic resonance imaging scan. He got some extra encouragement from Joshua Zigmont, RN, BSN, research nurse coordinator, and the pep talk persuaded Antonio to stay still and calm. They’ve built a trusting friendship, and Antonio now looks forward to coming every month for their lively thumb-wrestling matches that are a good distraction during his bloodwork and drug infusions. Antonio is the reigning champ, but Zigmont is always ready for a rematch and round-by-round commentary of the superfight.

The study that Antonio is participating in is a phase 2 industry-sponsored drug trial. It is placebo controlled and blinded, but it has three randomization groups where patients are either assigned to receiving placebo for one year and then the study drug for one year, vice versa, or assigned to receiving the study drug for both years. Antonio is entering his second year of the clinical trial, and at times it can be frustrating not knowing if and when he is receiving the study drug, Deb said, but they’re always grateful to be part of the research process.

“They’ve given Antonio the opportunity to hopefully experience a better outcome,” Deb said.

She is amazed at how the clinical research staff goes above and beyond to make every experience at CHOP a positive one. Antonio arrived at his latest visit with a warm smile and one of his favorite stuffed animals, Happy, who tagged along for a height and weight check. Vital signs and bloodwork quickly followed. All measurements during the clinical research visit must be recorded in a certain order and at specific times, so Zigmont keeps everything on schedule. But he made sure to squeeze in time for Antonio to have a well-deserved snack, since he was required to fast the previous night.

Next, Antonio received his drug transfusion over the course of about an hour, not an easy task for an active little boy who isn’t a fan of sitting still, so TV shows and computer games helped him pass the time. Meanwhile, Foster answered an online survey to assess Antonio’s quality of life and share any family concerns at this point of the study. Antonio was full of questions of his own like, “Where are we going? What’s next? Are well all done?” which Zigmont was always ready for with a jokey answer.

At some visits, Antonio has an appointment with the physical therapy department where CHOP’s physical therapists put a playful spin on tests that measure his muscle strength, coordination, and endurance. They’ll look for a common sign of muscle weakness in DMD, called Gower’s sign, in which a child in a sitting or squatting position grasps his knees with his hands and walks them up toward his thighs and hips to help pull himself upright. Antonio usually wraps up his clinical research day with a magnetic resonance imaging scan and X-rays that also help to show how his muscles, joints, and spine are doing.

At 8-years-old, Antonio obviously is a pro at the clinical research study protocol. Once, he even earned a badge from a CHOP security officer that he proudly showed off in the hospital’s halls. It’s all in a day’s work for this outgoing research hero.

Tags: research hero, Duchenne muscular dystrophy, DMD, neuromuscular disease, clinical trials, novel therapeutics, rare and complex diseases

Is Mindfulness Important for Mothers of Babies With Heart Conditions?

Wed, 11/08/2017 - 06:00
University Pennsylvania School of Nursing, Children's Hospital of Philadelphia The Findings:

A cardiac intensive care unit (CICU) filled with tiny infants connected to collections of tubes and buzzing monitors can be an intimidating and overwhelming place for a mother who is worried about her newborn with congenital heart disease (CHD). A Children’s Hospital of Philadelphia team of nurse researchers conducted a qualitative study in which mothers of babies who have a complex heart condition described the post-diagnostic period, surgery, and the CICU stay as extremely stressful. The researchers also examined mothers’ coping mechanisms, and they identified mindfulness as a potential helpful early intervention tool to reduce mothers’ stress.

Why it matters:

The coping mechanisms of mothers of infants with CHD could influence how a family adapts to their infants’ complex medical needs and also impact the infants’ outcomes. Nurse researchers want to find out how they can best address these mothers’ anxiety. Currently, no data-based strategies have been developed to assist mothers of critically ill infants with CHD in developing skills for stress reduction, emotion, affect, and attention regulation. The researchers concluded that an acceptable and feasible approach is to encourage mothers to practice mindfulness, which teaches a person to pause, appreciate the present, and engage in a heightened internal awareness without emotional reactivity.

Who conducted the study:

A team of nurse researchers from CHOP and the University Pennsylvania School of Nursing conducted the study led by Barbara Medoff-Cooper, PhD, RN, FAAN, principal investigator and Ruth M. Colket Professor in Pediatric Nursing at CHOP and at a professor at Penn Nursing. Nadya Golfenshtein, PhD, RN, a researcher at Penn Nursing was lead author of the study. Amy Lisanti, PhD, RN, CCNS, CCRN-K, a nurse researcher at CHOP and Penn postdoctoral fellow, also contributed to the study.

How they did it:

The study team gathered perspectives on coping mechanisms from focus groups with 14 mothers of critically ill infants. The researchers collected data during sessions between July 2015 and March 2016. They explored the feasibility of mindfulness as a stress-reduction technique. The sessions included a short introduction to mindfulness led by a moderator who is a psychotherapist experienced in group formats.

Quick thoughts:

“(Mothers’) increased stress often led to them feeling out of control, lethargic, and not like themselves,” Dr. Lisanti said. “They acknowledged the importance of stress reduction, recognizing that relief from stress could help them sleep better, recharge energy, focus, and think clearly.”

What’s next:

The study team wants to do more research on mindfulness in a larger cohort of mothers and design a program that draws from these findings to help mothers engage in mindfulness as a coping strategy with a positive focus on the “here and now.”

Where the study was published:

Journal of Pediatric Nursing

Where to learn more:

Read a feature story in our online magazine Bench to Bedside about this novel research that centers on how CICU nurses can best help mothers who feel stressed in the CICU. In a previous study, published in the American Journal of Critical Care, Dr. Lisanti identified some of the strongest factors that contribute to such distress.

“Talking with these parents, sensing their stress, and seeing that they wanted to discuss their anxiety in developmental rounds, it was clear,” Dr. Lisanti said in the Bench to Bedside article. “We really need to come up with ways to understand what is feeding into parents’ stress so we as nurses can do something about it.”

Find out more about the Journal of Pediatric Nursing study in this press release.

Tags: Snapshot Science, rare and complex diseases, cardiac intensive care unit, CICU, congenital heart disease, CHD, heart conditions, babies, mothers, mindfulness, stress, nurse researchers, critically ill infants, Barbara Medoff-Cooper, Amy Lisanti, Nadya Golfenshtein, Janet Deatrick

Weight and CHD, Tumor Biology, I-ACT Grant, Mitochondrial Disease Guidelines

Fri, 11/03/2017 - 06:00
Center for Data Driven Discovery in Biomedicine, PEDSnet

As the November chill settles in, warm up to new scientific discoveries and novel projects for improving children’s health from our researchers at Children’s Hospital of Philadelphia. In our roundup of research headlines, we share the latest findings on the biology of pediatric low-grade gliomas – the most common childhood brain tumor – congratulate Christopher Forrest, MD, in his role as co-investigator of a new FDA-funded clinical trials network, and give you the highlights on two new papers from researchers in mitochondrial medicine and cardiology.

New Research Associates CHD Patients’ Weight with Post-Surgery Outcomes 

How does weight affect the outcomes for pediatric patients with congenital heart disease (CHD)? According to new research led by Michael O’Byrne, MD, a cardiologist at CHOP, children, adolescents, and young adults with CHD may have a higher risk for adverse outcomes after cardiac surgery if they fall under extreme ranges of body mass index (BMI), a calculation based on weight and height. In a study published in Circulation, Dr. O’Byrne (who was at Children’s National Medical Center at the time of the study) and his colleagues conducted a retrospective study of over 18,000 cardiac surgery patients between the ages of 10 and 35 years old. The researchers found that compared to patients of normal weight, both obese patients and severely underweight patients were 1.3 times more likely to have an adverse outcome – including death, longer hospital stays, or wound complications like infections. The nationwide study was the first to examine how BMI affects post-surgery outcomes in children and received support from the National Institutes of Health. 

“This is an observational study with some limitations, but it demonstrates an avenue for research that has the potential to benefit our patients,” said Dr. Byrne in a press release. “The next steps are studies that evaluate the biological mechanisms underlying these associations, paired with clinical studies evaluating whether targeted interventions for obese and underweight patients can help improve outcomes.”

Learn more in the press release.

Distinctions in Tumor Biology Provide Insights for Precision Treatments

Pediatric low-grade gliomas (PLGG) are the most common type of brain tumor in children. Gaining a precise understanding of how PLGG develops can lead to more effective anticancer treatments. Two new studies co-led by researchers at CHOP’s Center for Data Driven Discovery in Biomedicine (D3b) have discovered important biological differences in how mutated genes – specifically the BRAF and CRAF genes of the RAF gene family – combine with other genes to drive PLGG. Mutations in both BRAF and CRAF can cause the gene to combine with a partner gene to express an abnormal fusion protein that results in cancer.

In the first paper, published in Oncogene, a research team led by Adam Resnick, PhD, director of D3b, Angela Waanders, MD, director of clinical research for D3b, and Phillip Storm, MD, co-director of D3b and division chief of Neurosurgery at CHOP, found that one crucial distinction between BRAF and CRAF is that CRAF-fusions may not respond as well as BRAF-fusions to anticancer drugs called RAF inhibitors.

Complementing that study, the second paper, published in Oncotarget and also co-authored by Drs. Waanders and Storm, revealed biological mechanisms by which RAF-fusion tumors develop drug resistance and suggested a solution might be to use a combination of drugs that bypass the difference in how RAF inhibitors succeed against CRAF-fusions compared to BRAF-fusions.

Parsing the molecular details of tumor subtypes and resistance mechanism allows us to better define the therapeutic landscape as we pursue translational research,” said Dr. Resnick in a press release. “Large-scale clinical sequencing and molecular profiling can better inform collaborative programs such as the National Cancer Institute-Children’s Oncology Group Pediatric MATCH clinical trials and the Pacific Neuro-Oncology Consortium. Our findings in these new studies will advance our clinical efforts to develop more effective, personalized treatments for children.” 

Learn more about the two new papers in the press release.

Dr. Christopher Forrest Co-Investigator for New Clinical Trials Network

Christopher Forrest, MD, pediatrician at CHOP and the principal investigator of PEDSnet, will be the co-investigator of a new global clinical trials network that will strengthen the development of medical devices and treatments for children. The network, which received $1 million in funding for the fiscal year 2017 from the U.S. Food and Drug Administration last week, seeks to fill an unmet need in the healthcare industry as the development of pediatric-specific therapies still lags behind that of similar products for treating adults. The network was launched under a new national nonprofit program, the Institute for Advanced Clinical Trials (I-ACT) for Children, whose goal is to improve the completion and management of pediatric clinical trials by identifying key challenges.

The network will leverage the power of collaboration between itself, the James M. Anderson Center for Health Systems Excellence, Critical Path Institute, the National Capital Consortium for Pediatric Device Innovation and, notable to CHOP, PEDSNet – a national clinical research network led by CHOP that involves eight other children’s hospitals. According to Dr. Forrest, the new I-ACT network will support the development of new pediatric medicine and devices by focusing on planning and strategy, best practices and education, and the management of trials infrastructure.

“This award brings together leaders in pediatric trials innovation from across the public and private sectors in an exciting new clinical trials network, and creates an environment of continuous learning and quality improvement to ensure its sustainability,” said Dr. Forrest in a press release.

Learn more about I-ACT and Dr. Forrest’s involvement in the press release.

Dr. Amy Goldstein Helps Establish New Mitochondrial Disease Guidelines

Mitochondrial disease, a group of conditions that result from inherited dysfunction in our body’s tiny energy-generating cells, can affect nearly every system in the body. When our mitochondria fail us, the disorder often results in multiple co-occurring health conditions that can range from vision problems to cardiac concerns, to neurological issues, and beyond. Physicians who see complex mitochondrial patients can benefit from a standard set of guidelines that can optimize outcomes for individual patients.

In a new paper published in Genetics in Medicine, the Mitochondrial Medicine Society (MMS) sought to provide just that, issuing a set of recommendations for managing and treating patients with mitochondrial disease. Amy Goldstein, MD, newly appointed Clinical Director of the Mitochondrial Medicine Frontier Program and president of MMS, co-led the study. The guidelines cover a broad range of medical specialties including audiology, cardiology, ophthalmology, and more, address medications commonly used to treat mitochondrial diseases, and touch on specific issues that patients might encounter during pregnancy or high-altitude travel. For both clinicians and patients, the recommendations are a much-desired tool: In a TK survey, the MMS found that 99 percent of 200 clinicians surveyed worldwide reported wanting additional guidelines to assist in managing care and according to Dr. Goldstein, families have also asked for a document of recommendations to bring to their own physicians.

“Standards of care are not uniform across centers or clinicians,” Dr. Goldstein said. To take just one example, clinicians need to know how often to order laboratory tests to monitor the health of patients with mitochondrial disease. Our guidelines reflect expert consensus based on our current knowledge of mitochondrial medicine.”

Read more in the press release.

ICYMI

Recently on Cornerstone,we shared exciting news about the launch of the new Penn Center for Health, Devices, and Technology that will support CHOP innovators, gave you some key highlights from the 10th annual Friedreich’s Ataxia Symposium hosted by the Penn Medicine/CHOP Friedreich’s Ataxia Center of Excellence, and spent an exciting (and educational!) day in the life of Joshua Zigmont, RN, BSN, a nurse research coordinator at CHOP.

Catch up on our headlines from our Oct. 20 edition of In the News

  • Flaura Winston Joins National Academy of Medicine
  • Philadelphia Pediatric Medical Device Consortium Funds Two Pediatric Devices
  • CHOP Collaborates With Medline to Reduce IV Insertion Pain
  • Dr. Kathleen Sullivan Wins Boyle Scientific Achievement Award

Keep up with our news, stories, and updates in real time by following us on Twitter, Facebook, LinkedIn, or Instagram. Or subscribe to our newsletter to get an email sent every other Friday by signing up here, or via the box on the upper right of this page.

Tags: congenital heart disease, body mass index, weight, Michael O’Byrne, cardiology, Circulation, cardiac surgery, obesity, underweight, Christopher Forrest, Food and Drug Administration, clinical trials, Faculty development, Institute for Advanced Clinical Trials (I-ACT) For Children, Edward Connor, George Washington University, medical devices, PEDSnet, Amy Goldstein, Mitochondrial Medicine Center, Genetics in Medicine, Mitochondrial Medicine Society, guidelines, tumor, precision treatment, low-grade gliomas, PLGG, Center for Data Driven Discovery in Biomedicine, Oncogene, Oncotarget, Adam Resnick, Phillip Storm, Angela Waanders, neurosurgery, Cancer, Oncology, translational research, gene mutation, BRAF, CRAF, RAF

A Day in the Life of a Clinical Research Coordinator

Tue, 10/31/2017 - 06:00
Center for Human Phenomic Science

Editor’s Note: Our clinical research coordinators at Children’s Hospital of Philadelphia are a unique professional hybrid. Part researcher, healthcare professional, data coordinator, social worker, personal coach, and travel concierge, they go above and beyond their job descriptions in order to help families navigate the complexities of participating in clinical research studies. We invited Joshua Zigmont, RN, BSN, who has been a nurse research coordinator for seven years, to describe a typical day on the job. The first thing he told us is that the most consistent thing about the position is its inconsistency: “You have to be flexible because you never know when a curveball is coming,” Zigmont said. So while no day is ever typical, here is a glimpse of a day in the life of a clinical research coordinator.

8:00 p.m. Slumber Party Setup

It’s been an all-day marathon — literally, I’ve already tracked 24,000 steps today — and my next research volunteer, 10-year-old Jack Broderick, has arrived at the Center for Human Phenomic Science. CHPS is our home base for conducting many of our clinical research studies at CHOP. Since the studies that I’m currently working on are rather complex, the kids I see get to know this place pretty well. They come here for research visits on about a monthly basis, sometimes less and sometimes more, which allows me to personally connect with the families and offer them a support system. It’s my favorite part about being a clinical research coordinator.

Jack is enrolled in a phase 2 industry-sponsored drug trial that aims to promote muscle regeneration and maintenance for children with Duchenne muscular dystrophy, regardless of the type of genetic mutation that is underlying their disease. He’s been enrolled in the study for about six months, and the research protocol requires him to stay overnight in the main hospital once every three months so that we can perform continuous blood draws to measure the amount of drug that is absorbed by his system. We also monitor his heart and check his vital signs throughout the night to be on the lookout for any possible side effects.
Jack and his mom, Jocelyn, have traveled from Marlton, N.J., and they’ve come prepared to make the sleepover as fun as possible. His bag is packed with his favorite snacks, gadgets, and mini hand trampolines to bounce balls back and forth the small room. It’s not really required that I be here to get Jack settled in, but I realize that spending the night at the hospital is a big commitment for families, so I don’t mind devoting some time to hang out with them. We play games, talk with funny French accents, and then get the “Angry Birds” movie queued up before I head home. We have a busy morning ahead of us.

9:30 a.m. Tackling the Checklist

I’ll be with Jack and Jocelyn throughout the day to make sure they’re where they need to be and that all of their questions are answered. The backbone to keeping the day running smoothly is to schedule everything in advance. I have calendars on top of calendars. Today’s checklist has18 “must do’s.” So that things don’t get too overwhelming for Jack, we’ve come up with a reward system. For each “must do” that we check off, Jack earns a letter. By the end of the day, we’ll spell out “Macaroni and Cheese!” and Jack will get to enjoy his favorite meal.

Jack has already had his morning dose of the study drug, so next on the list is an electrocardiogram to measure his heart’s electrical activity. We start joking around in our French accents again, which makes it hard for him to stop laughing, but Jack manages to keep still long enough, only moving his eyebrows up and down a few times like a comedian and giving a sly grin.

10 a.m. Physical Therapy: Playing can be Hard Work

It’s not uncommon for me to encounter other departments who aren’t always familiar with the process of clinical research studies. I make the extra effort to establish a good rapport with my colleagues and educate them about why I’m showing up all the time with our young research volunteers. Obviously, they’re busy seeing clinical patients too, so again, scheduling a time that is convenient for everyone is essential. This morning, a physical therapist who knows the research ropes and has worked with Jack before is ready for our visit with an enthusiastic welcome.  

We try to keep things fun. Jack goes through a series of tasks such as standing and jumping on one foot, lying down and sitting up, and stacking a tower of cans. His family gave consent for his physical therapy testing sessions to be videotaped for training purposes so that other study sites can learn from our physical therapists’ techniques. I get to be the cameraman, and we pretend to be shooting a movie. Jack gets a kick out of raising his eyebrows as a flourish for the camera each time he accomplishes a task. Next, I grab an office chair for Jack to sit in and wheel him to the starting point of his six-minute walk test. Jack walks a loop up and down the corridor, and I follow behind to ensure the timing and distance is measured as precisely as possible.

Jack is a fifth-grader and still very able-bodied despite his diagnosis, so he usually can get through the physical therapy exam in about 30 minutes. But the study he is enrolled in has an age range of 5 to 10 years old, so it can take much longer when I’m dealing with younger kids. That’s why it’s so important for me to have a good relationship with the family. I’ve learned the ins and outs of how to work with each child and know some tricks get them to do the testing when they’re flat out not cooperating. Some children with Duchenne muscular dystrophy are sensitive to certain sounds and textures, so taking their shoes off for the physical therapy exam can be challenging. I often end up taking my shoes and socks off as well to convince them that it’s cool to be barefoot.

10:45 Back for a Blood Draw

We head back to Jack’s room at the CHPS for another blood draw. Jack is a pro at this part, and a clinical research nurse easily takes care of him and collects the blood sample, although I’m always willing to jump in. One benefit of having a nursing background and being a clinical research coordinator is that I can pull double duty whenever needed, getting labs drawn or taking vital signs, those sorts of things. The CHPS staff appreciates it very much when I can help out if they’re swamped.
While Jack is in good hands, I take a moment to double check all of the data I’ve gathered so far this morning. Tracking everything takes a lot of time and attention. My job is to stay tuned to any little symptom or issue that is going on, and then to document the entire clinical study day. By tomorrow, I’ll have all of the data that I collected from Jack’s visit entered into the system of the pharmaceutical company conducting the study, and someone there will review it with a fine-tooth comb to ensure it’s accurate.

11:15 Taking a Breath

It’s always a relief to have the blood draws out of the way. Now, we’re off to cross the bridge that connects to the hospital’s new outpatient facility, the Buerger Center, a colorful, curvy building with a swirling walkway that Jack loves to follow. I let the front desk of the pulmonary function testing department know we’ve arrived. The technician is working on calibrating the machines for Jack’s testing, so we have a few minutes to relax. Jack and I sit next to the window with a view of the Buerger’s Center rooftop garden below us, and he shows me his latest video game.
While being a buddy isn’t necessarily on my job description, I always try to consider the child’s outlook on things. For them, they’re told by their parents that being on a study is to help them, but being here all day for these visits can be boring and tedious. I’ll always find a few minutes during the day to take an interest in what they’re reading, drawing, playing on their computer, etc. Building that connection can go a long way.

The pulmonary function testing is a bit of a workout for Jack. He performs a series of breathing maneuvers, and everyone in the room tends to follow the instructions too: “Suck the air in as hard as you can, now blow out with a big blast … go, go, go, keep going!” Jack gets a new “high score,” and gives a big smile.

Noon: Why Take Part in Clinical Research?

As we head back to the CHPS for Jack’s well-deserved lunch break, Jocelyn talks about why she finds participating in clinical research so valuable: “Being in a study gives a lot of hope for families. There’s much to be gained and nothing to be lost. Here at CHOP, they take all the pressure off your shoulders. They are top-notch professionals who keep you informed every step of the way, and the more you find out about how the research process works, the less intimidating it is.”

It’s good to hear her put into words what I try to accomplish each day. For me, being a nurse and a clinical research coordinator as well, I’m often the first point of contact for families who volunteer for these neuromuscular studies. They’ll reach out with research questions, clinical questions, and sometimes they’ll reach out with social work questions too. They’re seeing me so often, and they’re so used to talking to me, that I really get to know them.

Even though it’s a lot of work, it’s also one of the things that I find most satisfying about my job. I put myself in the shoes of these families. They have a lot on their plates, and the severity of their children’s diagnoses comes with a lot of mental stress. When they offer their children to be participants in these studies, I think that commands a certain amount of dedication and sense of compassion as a clinical research coordinator to go the extra mile and make things as fun, easy, and enjoyable as possible.

Tags: Clinical research coordinator, clinical trials, Center for Human Phenomic Science, Joshua Zigmont, Duchenne muscular dystrophy, novel therapeutics, rare and complex diseases

Friedreich’s Ataxia Community Stays on Top of Science and Stays in Touch

Fri, 10/27/2017 - 06:26
Friedreich’s Ataxia Center of Excellence, Center for Mitochondrial and Epigenomic Medicine

Patients and families dealing with the rare, debilitating disease Friedreich’s Ataxia showed their true strength at the 10th Annual Friedreich’s Ataxia Symposium held in King of Prussia, Pa. The FA community is a steadfast supporter of research, and they have been gathering for a decade to spend a day with each other building friendships and learning the most up-to-date information on the therapeutic approaches and scientific studies being conducted in the field of FA.

Researchers from Children’s Hospital of Philadelphia took a moment during each of their presentations to sincerely thank the attendees: “We could not make these discoveries without you.”

FA is a progressive neuromuscular disease that occurs in approximately one in 50,000 people in the U.S. It’s caused by inherited deficiencies in the mitochondrial protein called frataxin that lead to an energy gap in cells. Our brains and hearts use a huge chunk of the energy that our bodies produce, so when people with FA’s mitochondria aren’t working to full capacity, they usually experience neurologic dysfunction that affects the flow of sensory information, and their heart muscle doesn’t pump blood efficiently. People with FA have trouble with balance, coordination, and fatigue, but the disease does not affect the part of the brain involved in cognition and learning.

 

Holly Hedrick, MD, a surgeon in the division of Pediatric General, Thoracic and Fetal Surgery at CHOP, has a 16-year-old daughter, Grace, who has FA and is cared for by David Lynch, MD, PhD, a CHOP pediatric neurologist and co-director of the Friedreich's Ataxia Center of Excellence.

Patrick Ritschel took part in the symposium Oct. 16 because he has two daughters who have FA, Samantha, 13, and Angelina, 15. They both are patients and research participants at CHOP under the care of David Lynch, MD, PhD, a pediatric neurologist who is director of the Friedreich’s Ataxia Program, and Kimberly Lin, MD, in cardiology. Samantha and Angelina have been included in a number of non-interventional trials at CHOP and are enrolled in a natural history study of FA, which in October received $2 million in grant support from the U.S. Food and Drug Administration (FDA).

The natural history study is helping Dr. Lynch and colleagues characterize and understand how the FA disease process evolves during individuals’ lifetimes and how to measure reasonable improvement in the condition. Currently, no drug therapy is available to halt or delay disease progression or reduce FA symptoms.  

This year was the fifth time Ritschel has traveled from Wilmington, Del., to attend the event, which was hosted by the Penn Medicine/CHOP Friedreich’s Ataxia Center of Excellence. Dr. Lynch co-directs the Center along with Robert Wilson, MD, PhD, a senior scientist in the Center for Mitochondrial and Epigenomic Medicine.

“There is a great sense of community and interconnectedness among the folks who are here,” Ritschel said. “The Center of Excellence and the people at CHOP have the ability to integrate the basic research with the clinical piece, which is really powerful. Their knowledge and capability are second to none.”

The Center launched in 2014 with a $3.25 million gift from FARA, the Friedreich’s Ataxia Research Alliance, in partnership with the Hamilton and Finneran families to focus on expanding research on the cardiology of FA, pursuing new basic research avenues, facilitating drug discovery, and establishing a biomarker development program with the expertise of Ian Blair, PhD, A.N. Richards Professor, vice chair of Penn’s department of Systems Pharmacology and Translational Therapeutics, and director of Penn’s SRP Center.

“The Center is incredibly valuable,” Dr. Wilson said. “We bat around ideas. We debate. Having all that expertise in one place creates incredible synergy. It is not just a concentration of intellect, but a stability of funding that helps us keep the best people and allows us to do much more complex and difficult investigations.”

Several of the Center’s researchers, including Dr. Wilson, Dr. Lynch, Dr. Blair, Dr. Lin, and Shana McCormick, MD, MTR, an attending physician in the division of Endocrinology and Diabetes at CHOP, also gave updates on some of the studies that they’re working on. They demonstrated how being involved with the Center motivates them to continually “push the envelope” to look at new mechanisms that may be underlying FA and to find reliable biomarkers to monitor the effects of investigational therapies.
 

For example, Dr. Blair has been using mass spectrometry methodology to examine and measure molecular abnormalities in platelets isolated from FA. Part of this work suggests that apolipoprotein A1 (ApoA-1) levels are low in FA. ApoA-1 is a major protein constituent of high-density lipoprotein, or HDL, cholesterol. Dr. Blair’s laboratory team developed a mass spectrometry-based assay as an accurate quantification method that would allow for ApoA-1 to be used as a potential FA diagnostic biomarker. Their findings may point toward future research directions aimed at optimizing HDL-cholesterol levels in patients with FA as a therapeutic option. He also described a new way of accurately quantifying frataxin (the protein that is reduced in FA) in whole blood so that new therapies can be properly evaluated.

During her presentation, Jennifer Farmer, executive director of FARA, shared some highlights from the nonprofit organization’s efforts to align scientists, patients, clinicians, government agencies, and pharmaceutical companies in their quest to find a cure for FA. In June, FARA and several other patient advocacy groups dedicated to FA and related diseases for the first time participated in a FA patient focused drug development meeting, and they subsequently published a report called “Voice of the Patient”.

This opportunity allowed patients living with FA to tell the FDA and drug developers in their own words about their experiences with FA, what matters to them most about their quality of life, their view of potential therapies’ benefits and risks, and where they would like to see research move forward. One of the report’s conclusions is that while the majority of patients noted that balance, dexterity, and fatigue affected their lives the most now, their greatest concern for the future is the development and progression of cardiomyopathy because it is life-shortening.

Symposium attendees came from all over the country, including Allison Dana, a FARA ambassador from North Carolina who spent the day with her husband, Nathan (right), and her black and white Great Dane service dog, Zeppelin, at her side. While Allison Dana said hearing about the latest progress toward therapies is helpful, she found “the social aspect more immediate.” As an ambassador, she is a peer representative and spokesperson dedicated to building and upholding relationships within the FA community. At previous symposiums, Dana has given presentations on daily living with FA such as managing a career and bringing a service dog into the household.

Closer to home, Holly Hedrick, MD, a surgeon in the division of Pediatric General, Thoracic and Fetal Surgery at CHOP, has a 16-year-old daughter, Grace, who has FA and is cared for by Dr. Lynch and the FA team. They have been involved since the first symposium, when Grace was diagnosed at 5 years old, and the annual meeting helps to remind them that they are not alone in facing FA.

“It is amazing to see the power of the FA community coming together every year,” Dr. Hedrick said. “The day is so hopeful, and CHOP is the epicenter of care and research for FA.”

 

Tags: Friedreich’s Ataxia, FA, symposium, Friedreich’s Ataxia Center of Excellence, neuromuscular disease, Mitochondria, frataxin, natural history study, ApoA-1, biomarker, Ian Blair, David Lynch, Robert Wilson, Kimberly Lin, Shana McCormick, Holly Hedrick, Jennifer Farmer, Allison Dana, FARA, rare and complex diseases, clinical trials

Invite to Innovation: Penn Health-Tech Bridges Gaps in Medical Device Ecosystem

Tue, 10/24/2017 - 11:45
University of Pennsylvania

How do you turn an idea into an invention, a discovery into a device, or a project into a product that will impact how we care for children and drive innovation? Whether it’s finding funding, partnering with the right team members, or accessing the most effective resources, researchers and entrepreneurs face many barriers before they’re able to bring an idea to the bedside. With the launch of the new Center for Health, Devices, and Technology (Penn Health-Tech), faculty members at Children’s Hospital of Philadelphia now have the opportunity to access a main ingredient that helps to break through many of those barriers: connections.

Led by a trio of experts from Penn Engineering, Medicine, and Business, Penn Health-Tech describes itself as a community of “connectors” seeking to unite researchers from CHOP with Penn Medicine and Engineering, leveraging its rich ecosystem of resources and leadership. The ultimate goal is to identify novel innovations or devices and move them through the pipeline of development so that they can be put to use in healthcare settings. Penn Health-Tech’s executive committee includes our own Flaura Winston MD, founder of the Center for Injury Research and Prevention (CIRP) and Scientific and Medical Advisor for Innovation at CHOP, who believes that the new Center will act as a “bank of wisdom” for overcoming the common hurdles in developing medical innovations for both pediatric and adult populations.

“We have many creative people at CHOP who understand pediatric pain points that their research and discoveries can solve,” Dr. Winston said. “But they’re having trouble turning it all into opportunities because they don’t have the connections. There are numerous barriers along the way that people don’t know how to navigate. We’re trying to design Penn Health-Tech to dramatically reduce the barriers to going from discovery to product.”

According to Mark Turco, MD, chief innovation officer and corporate outreach officer for the Penn Center for Innovation and the acting executive director of Penn Health-Tech, the Center will provide support through partnership of resources, expertise, and financial awards. Selected programs will have assigned project managers who will drive the concepts from inception to bedside and allow the CHOP and Penn-based communities to share clinical, research, and engineering talents to accelerate translation. The power of collaboration is key.

“We are at a time in academic medicine and healthcare when there needs to be a lot of interaction to allow for the translation of ideas and technology, and also to move those ideas through pathways that allow for optimal and most rapid success,” Dr. Turco said. “What Penn Health-Tech hopes to provide to CHOP is the ability for researchers, entrepreneurs, faculty members, and innovators to work collaboratively with the Penn-based community – specifically Penn Engineering and Medicine.”

Penn Health-Tech will hold its first symposium at the Smilow Center for Translational Research Wednesday, Nov. 1, from 8 a.m. to 6 p.m., at which a lineup of speakers will present on topics such as the device development cycle, investment, regulatory principles, and more. The Center’s leaders will also announce the first five award winners for their initial request for proposals – a list that includes two pediatric projects from CHOP.

So how can CHOP researchers and faculty engage with the new Center? One potential way is to submit project ideas when Penn Health-Tech sends out a request for proposals. The Center hopes to provide grant funding for early-based technologies to move through the developmental process.

“Penn Health-Tech will review those project applications, and if it meets criteria, the hope is that Penn Health-Tech is able to help support that project,” Dr. Turco said. “The support may come in seed funding, or it may come in providing resources and expertise to get that technology or device ultimately through to the bedside.”

Dr. Turco adds that another way to interact is to reach out to the Center via its website and request a meeting with its teams. Penn Health-Tech can then meet with faculty innovators or entrepreneurs and speak about opportunities to get involved or resources available to CHOP through the Center. Finally, Penn Health-Tech holds monthly meet-ups, with October’s meet-up (to be held on Oct. 26 from 4 p.m. to 7 p.m.) featuring CHOP clinicians and titled “Unmet Clinical Needs in Pediatrics.” CHOP engineers and clinicians are invited to attend in order to learn more about the invention and development of medical devices.

Penn Health-Tech’s faculty leadership includes Brian Litt, MD, (left) co-director and a professor of Neurology and Bioengineering at the Perelman School of Medicine, and Insup Lee, PhD, (right) co-director and Cecilia Fitler Moore Professor at Penn Engineering. In addition to CHOP, the Center’s partners include Wharton Entrepreneurship, the Penn Medicine Center for Health Care Innovation and its medical device accelerator the Philadelphia Pediatric Medical Device Consortium, the Penn School of Design, Centers within the Institute for Translational Medicine and Therapeutics, and more.

You can register for the Penn Health-Tech symposium here and find out about other upcoming events on the Center's website.

Tags: Penn Health-Tech, Center for Health Devices and Technology, University of Pennsylvania, Penn Medicine, Penn Engineering, Flaura Winston, Mark Turco, Brian Litt, Insup Lee, entrepreneurship, Innovation, medical device, invention, grants

Flaura Winston NAM Election, Philadelphia Pediatric Medical Device Consortium, SeeIV, Boyle Scientific Achievement Award

Fri, 10/20/2017 - 07:00
Center for Injury Research and Prevention, Division of Allergy and Immunology, Office of Entrepreneurship and Innovation, Philadelphia Pediatric Medical Device Consortium

At Children’s Hospital of Philadelphia, our investigators are continuously helping to develop evidence-based technology that will improve the way we care for and protect children’s health. And in this week’s headlines, we’re seeing that happen in more ways than one. From the creation of devices that will make the lives of clinicians and patients easier, to providing seed grants for novel innovations through the Philadelphia Pediatric Medical Device Consortium, to informing safe practices for technology through renowned organizations like the National Academy of Medicine, we invite you to keep reading to learn what our researchers are up to!

Flaura Winston Joins National Academy of Medicine

After decades of impactful work in the field of pediatric injury research, Flaura Winston, MD, is bringing her expertise to the National Academy of Medicine as one of 80 new physician members elected this year. Dr. Winston is the founder and scientific director of the Center for Injury Research Prevention (CIRP) at CHOP as well as an inspirational pediatrician, engineer, and public health advocate whose research-action-impact approach to improving teen driving and child passenger safety has led to numerous breakthroughs and innovations. In 1997, Dr. Winston founded the Partners for Child Passenger Safety Program, a decade-long partnership with State Farm Insurance that reduced the number of car crash injuries in children. With her team of researchers, Dr. Winston developed Diagnostic Driving, a startup company that provides a virtual driving assessment to universities, corporate fleets, and driver licensing centers – a program already in use at centers in Ohio. Dr. Winston’s expertise extends to her work as a professor of Pediatrics at the University of Pennsylvania, an associate editor of Injury Prevention, the director of the National Science Foundation’s Center for Child Injury Prevention Studies, and more outlets that include U.S. federal advisory panels.

Learn more about Dr. Winston’s newest election in the press release.

Philadelphia Pediatric Medical Device Consortium Funds Two Pediatric Devices

Headquartered at CHOP and funded by the U.S. Food and Drug Administration, the Philadelphia Pediatric Medical Device Consortium (PPDC) is a collaboration between CHOP, Drexel University, and the University of Pennsylvania that provides support and seed funding to innovators with promising new technologies. Earlier this month, the PPDC announced its fourth and latest round of seed grants, selecting two companies from eight finalists with awards of $50,000 each. With the support of the PPDC, Voxello will be able to further develop and conduct clinical trials on the noddle™: a speech generating system that gives hospitalized children the ability to better communicate with clinicians. As well, InfraScan will be able to conduct clinical trials for the pediatric FDA clearance of its own technology, the Infrascanner™ Model 2000: a handheld scanner that can detect intracranial bleeding in children without using radiology.

“We are very excited to once again provide these awards to innovators of medical devices for kids, and grateful to our partners at the Childress Institute for their matching funds,” stated Matthew Maltese, PhD, engineer at CHOP and the Consortium’s executive director and principal investigator.

Learn more about the PPDC and its two latest grant recipients in the press release.

CHOP Collaborates With Medline to Reduce IV Insertion Pain

A partnership between CHOP and Medline, a global manufacturer of medical products, is bringing forward a novel tool to help clinicians minimize the pain that young patients feel during IV insertions, as well as improve their rest and healing. SeeIV is the brainchild of two nurses and a clinical safety manager at CHOP who wanted to find a better way to prevent tinkering, accidental bumping, or discomfort for the estimated 44 percent of pediatric patients who are given IV lines. With the help of the Office of Entrepreneurship and Innovation at CHOP, the team developed a flexible cover for the site of the IV insertion with a see-through window and noiseless closure. With Medline, the CHOP team scaled up development of SeeIV so that it could be delivered to the bedside of more children. The product debuted last week at the American Nurses Credentialing Center (ANCC) National Magnet Conference, where the CHOP team presented the story behind SeeIV. The collaborators are currently developing a pilot to further understand how SeeIV can improve the lives of pediatric patients, clinicians, and families.

Learn more in the press release, or watch this video explaining the development of SeeIV.

Dr. Kathleen Sullivan Wins Boyle Scientific Achievement Award 

Every year, the Immune Deficiency Foundation (IDF) recognizes members of the scientific medical community for their contributions toward diagnosis and care of patients with immunodeficiency diseases through the Boyle Scientific Achievement Award. Immunodeficiency diseases include over 300 rare chronic disorders in which an individual’s immune system does not function properly. This year, we are thrilled to share that Kathleen Sullivan, MD, chief of the division of Allergy and Immunology (center) at CHOP, was one recipient of the 2017 Boyle Award. Dr. Sullivan, who also holds the Frank R. Wallace Endowed Chair in Infectious Diseases, has made strides in immunodeficiency research with her investigations into common variable immunodeficiency, chromosome 22a11.2 deletion syndrome, and defining the role of epigenetics in inflammation.

“The Boyle Award is the highest honor in the field of primary immune deficiency, and I was thrilled to be recognized,” said Dr. Sullivan in a press release.

ICYMI

Recently on Cornerstone, we introduced our latest CHOP Research Hero, Nick Pautler, who hopes to inspire fellow individuals with leukemia with his story. We also sat down with Andrea Knight, MD, physician in the division of Rheumatology to learn about her current research on the neuropsychiatric symptoms of lupus. And we published an insightful new guest blog post from Amy Kratchman, a family consultant at CHOP on the new Research Family Partners program. We also attended the Translational Research Workshop for Basic Scientists, hosted by the Office of Postdoctoral Affairs, to learn how our experienced investigators are sharing their translational research methods and approaches to support junior faculty, postdocs, and grad students from CHOP and other institutions across the U.S.

Catch up on our headlines from our Oct. 6 edition of In the News:

  • CHOP Researchers Identify Gene Variants Linked to Neuroblastoma Risk
  • $5 Million Gift Will Expand Lustgarten Center for GI Motility
  • Dr. Levy Supports Universal ASD Screening in Contemporary Pediatrics Post
  • CHOP Researchers Describe Linguistic Challenges in ASD Diagnoses
  • Study Finds Re-Interventions Common in Fontan Procedure Survivors
  • CHOP Researchers Conduct Largest-Ever Study of Child Maltreatment in the U.S. Military

Keep up with our news, stories, and updates in real time by following us on TwitterFacebookLinkedIn, or Instagram. Or subscribe to our newsletter to get an email sent every other Friday by signing up here, or via the box on the upper right of this page.

Tags: Faculty development, Flaura Winston, National Academy of Medicine, Center for Injury Research and Prevention, Philadelphia Pediatric Medical Device Consortium, partnership, Voxello, noddle, InfraScan, Infrascanner, intracranial bleeding, Innovation, clinical trials, Medline, SeeIV, Office of Entrepreneurship and Innovation, Kathleen Sullivan, immunodeficiency, Division of Allergy and Immunology, Matthew MalteseFacebook Image: 

Flaura Winston NAM Election, Philadelphia Pediatric Medical Device Consortium, SeeIV, Boyle Scientific Achievement Award

Fri, 10/20/2017 - 03:00

At Children’s Hospital of Philadelphia, our investigators are continuously helping to develop evidence-based technology that will improve the way we care for and protect children’s health. And in this week’s headlines, we’re seeing that happen in more ways than one. From the creation of devices that will make the lives of clinicians and patients easier, to providing seed grants for novel innovations through the Philadelphia Pediatric Medical Device Consortium, to informing safe practices for technology through renowned organizations like the National Academy of Medicine, we invite you to keep reading to learn what our researchers are up to! 

Flaura Winston Joins National Academy of Medicine

After decades of impactful work in the field of pediatric injury research, Flaura Winston, MD, is bringing her expertise to the National Academy of Medicine as one of 80 new physician members elected this year. Dr. Winston is the founder and scientific director of the Center for Injury Research Prevention (CIRP) at CHOP as well as an inspirational pediatrician, engineer, and public health advocate whose research-action-impact approach to improving teen driving and child passenger safety has led to numerous breakthroughs and innovations. In 1997, Dr. Winston founded the Partners for Child Passenger Safety Program, a decade-long partnership with State Farm Insurance that reduced the number of car crash injuries in children. With her team of researchers, Dr. Winston developed Diagnostic Driving, a startup company that provides a virtual driving assessment to universities, corporate fleets, and driver licensing centers – a program already in use at centers in Ohio. Dr. Winston’s expertise extends to her work as a professor of Pediatrics at the University of Pennsylvania, an associate editor of Injury Prevention, the director of the National Science Foundation’s Center for Child Injury Prevention Studies, and more outlets that include U.S. federal advisory panels.

Learn more about Dr. Winston’s newest election in the press release.

Philadelphia Pediatric Medical Device Consortium Funds Two Pediatric Devices

Headquartered at CHOP and funded by the U.S. Food and Drug Administration, the Philadelphia Pediatric Medical Device Consortium (PPDC) is a collaboration between CHOP, Drexel University, and the University of Pennsylvania that provides support and seed funding to innovators with promising new technologies. Earlier this month, the PPDC announced its fourth and latest round of seed grants, selecting two companies from eight finalists with awards of $50,000 each. With the support of the PPDC, Voxello will be able to further develop and conduct clinical trials on the noddle™: a speech generating system that gives hospitalized children the ability to better communicate with clinicians. As well, InfraScan will be able to conduct clinical trials for the pediatric FDA clearance of its own technology, the Infrascanner™ Model 2000: a handheld scanner that can detect intracranial bleeding in children without using radiology.

“We are very excited to once again provide these awards to innovators of medical devices for kids, and grateful to our partners at the Childress Institute for their matching funds,” stated Matthew Maltese, PhD, engineer at CHOP and the Consortium’s executive director and principal investigator.

Learn more about the PPDC and its two latest grant recipients in the press release.

CHOP Collaborates With Medline to Reduce IV Insertion Pain

A partnership between CHOP and Medline, a global manufacturer of medical products, is bringing forward a novel tool to help clinicians minimize the pain that young patients feel during IV insertions, as well as improve their rest and healing. SeeIV is the brainchild of two nurses and a clinical safety manager at CHOP who wanted to find a better way to prevent tinkering, accidental bumping, or discomfort for the estimated 44 percent of pediatric patients who are given IV lines. With the help of the Office of Entrepreneurship and Innovation at CHOP, the team developed a flexible cover for the site of the IV insertion with a see-through window and noiseless closure. With Medline, the CHOP team scaled up development of SeeIV so that it could be delivered to the bedside of more children. The product debuted last week at the American Nurses Credentialing Center (ANCC) National Magnet Conference, where the CHOP team presented the story behind SeeIV. The collaborators are currently developing a pilot to further understand how SeeIV can improve the lives of pediatric patients, clinicians, and families.

Learn more in the press release, or watch this video explaining the development of SeeIV.

Dr. Kathleen Sullivan Wins Boyle Scientific Achievement Award 

Every year, the Immune Deficiency Foundation (IDF) recognizes members of the scientific medical community for their contributions toward diagnosis and care of patients with immunodeficiency diseases through the Boyle Scientific Achievement Award. Immunodeficiency diseases include over 300 rare chronic disorders in which an individual’s immune system does not function properly. This year, we are thrilled to share that Kathleen Sullivan, MD, chief of the division of Allergy and Immunology (center) at CHOP, was one recipient of the 2017 Boyle Award. Dr. Sullivan, who also holds the Frank R. Wallace Endowed Chair in Infectious Diseases, has made strides in immunodeficiency research with her investigations into common variable immunodeficiency, chromosome 22a11.2 deletion syndrome, and defining the role of epigenetics in inflammation.

“The Boyle Award is the highest honor in the field of primary immune deficiency, and I was thrilled to be recognized,” said Dr. Sullivan in a press release.

ICYMI

Recently on Cornerstone, we introduced our latest CHOP Research Hero, Nick Pautler, who hopes to inspire fellow individuals with leukemia with his story. We also sat down with Andrea Knight, MD, physician in the division of Rheumatology to learn about her current research on the neuropsychiatric symptoms of lupus. And we published an insightful new guest blog post from Amy Kratchman, a family consultant at CHOP on the new Research Family Partners program. We also attended the Translational Research Workshop for Basic Scientists, hosted by the Office of Postdoctoral Affairs, to learn how our experienced investigators are sharing their translational research methods and approaches to support junior faculty, postdocs, and grad students from CHOP and other institutions across the U.S.

Catch up on our headlines from our Oct. 6 edition of In the News:

  • CHOP Researchers Identify Gene Variants Linked to Neuroblastoma Risk
  • $5 Million Gift Will Expand Lustgarten Center for GI Motility
  • Dr. Levy Supports Universal ASD Screening in Contemporary Pediatrics Post
  • CHOP Researchers Describe Linguistic Challenges in ASD Diagnoses
  • Study Finds Re-Interventions Common in Fontan Procedure Survivors
  • CHOP Researchers Conduct Largest-Ever Study of Child Maltreatment in the U.S. Military

Keep up with our news, stories, and updates in real time by following us on TwitterFacebookLinkedIn, or Instagram. Or subscribe to our newsletter to get an email sent every other Friday by signing up here, or via the box on the upper right of this page.

The post Flaura Winston NAM Election, Philadelphia Pediatric Medical Device Consortium, SeeIV, Boyle Scientific Achievement Award appeared first on Cornerstone - CHOP Research Institute Blog.

Research Family Partners Program Brings New Dimension to Research Studies

Mon, 10/16/2017 - 07:25
Reserch Family Partners

Editor’s Note: Our guest blogger, Amy Kratchman, has been working with clinicians and researchers since 2008 as a family representative. She is the mother of three children with special healthcare needs. As a family consultant at Children’s Hospital of Philadelphia, Kratchman co-leads numerous family-centered care initiatives. She collaborates with senior hospital leaders and staff to ensure that the institution’s operating plan and programmatic goals are responsive to the needs of children and families. Kratchman co-leads Family Partners, an innovative program developed and implemented at CHOP, to maximize the meaningful engagement of families in all aspects of the pediatric healthcare delivery system. Engaging parents and youth in research is a major focus of this work.

Patients and families are at the heart of our research at Children’s Hospital of Philadelphia Research Institute. Now, they’re also at the pulse, participating in all phases of research projects, from the grant proposal to the dissemination of research findings. I’d like to introduce you to a new program called Research Family Partners that is helping to ensure that the patient and family voice is as vital to research as its methodology.

While our researchers always have conducted studies that they believe will advance pediatric care, in recent years, key agencies that fund research such as the National Institutes of Health, the Agency for Healthcare Research and Quality, and the Patient-Centered Outcomes Research Institute have begun asking a pertinent question: How do investigators know if this research will be important to the patients’ and families’ lives that it affects? The answer also is key to our mission at CHOP of delivering patient and family-centered care.

CHOP has long been a leader in patient and family-centered care, with the creation of a Family Advisory Council in 1996. Since then, our family volunteers have played an integral role in all of the work we do throughout the hospital. They are valued partners who bring diverse viewpoints that influence many aspects of patients’ experiences such as our buildings’ playful design or how we implement patient safety policies during flu season.

The Research Family Partners program promotes this same high level of patient and family engagement to achieve the best and safest research outcomes. It is a valuable resource that any researcher at CHOP can utilize. So far, we have about 25 Research Family Partners who contribute authentically to the development and conduct of research studies, and our number of volunteers continues to grow with the heightened demand to involve patients and families in research in a meaningful way.

The most frequent request that we receive is to create a family advisory group specific to a study. In this role, Research Family Partners present their various perspectives to help guide the research team. They give first-line information to make certain research is useful to patients and families.

Housed in our Patient and Family-Centered Care Office, the Research Family Partners program is available to recruit and orient families into research projects, and we provide them training and mentorship. We explain the project’s background and implications, how the research process works, and clearly define their roles and expectations. Since our families come from all different professional backgrounds and levels of education, we help the research teams translate some of the acronyms and terminology into “layman’s terms.”

The first time I joined a study team as a Research Family Partner, it honestly was a little intimidating to ask questions in front of a room filled with other research stakeholders, including clinicians, researchers, patient advocates, and policymakers. As I mentor new Research Family Partners, I help them to feel comfortable with speaking up because they have unique insights that study teams want to hear. In their daily lives, patients and families encounter the health challenges and concerns that researchers are trying to solve, so their firsthand experiences can be critical to helping the group understand a study’s feasibility and think about ways that could improve its likelihood of success.

The value of our Family Research Partners’ voice and feedback has been tremendous. We hear this anecdotally through our CHOP research teams, who tell us they see a new dimension of the health conditions they study: the family’s lived experience. Through this lens, research teams are able to develop novel approaches for evaluating health outcomes and ask research questions that are relevant to families.

For instance, a researcher studying autism spectrum disorder (ASD) might start out asking, “What problems would you like your child’s treatment to address?” With an approach informed by Research Family Partners, the question could evolve to become more specific and take into consideration where the child spends most of the day: “How does your child’s ASD impact his/her life at school and how he/she communicates with teachers and friends?”

CHOP Research Institute has become a leader in this growing area of engagement in research. Other institutions have been seeking our advice on how to incorporate the patient and family voice in research, as they are just beginning this journey. Most recently, we presented at the “Know Your Community Conference” held on the Research Institute’s campus where researchers from area hospitals inquired about how our Research Family Partners program operates. We also have advised national pediatric research networks on how to start creating patient and family engagement committees.

We have established an easily accessible group of Research Family Partners who we can match to meet researchers’ specific study needs. If we do not have a Research Family Partner on board who has knowledge of the diagnosis that is being studied, we have connections with many pediatric disease advocacy groups and can help researchers find families who want to become more involved in research endeavors.

Gone are the days when patients and families were considered to be “research subjects.” We’ve created a community where patients and families are true research participants collaborating as partners with researchers to produce reliable study findings that make a difference for our children.

For more information about our Research Family Partners Program, please contact Amy Kratchman at kratchmana@email.chop.edu or Anne Marie Richards at richardsam@email.chop.edu.

Tags: Amy Kratchman, clinical trials, family advisory group, patient and family-centered care, research, Research Family PartnersFacebook Image: 

Research Family Partners Program Brings New Dimension to Research Studies

Mon, 10/16/2017 - 03:00

Editor’s Note: Our guest blogger, Amy Kratchman, has been working with clinicians and researchers since 2008 as a family representative. She is the mother of three children with special healthcare needs. As a family consultant at Children’s Hospital of Philadelphia, Kratchman co-leads numerous family-centered care initiatives. She collaborates with senior hospital leaders and staff to ensure that the institution’s operating plan and programmatic goals are responsive to the needs of children and families. Kratchman co-leads Family Partners, an innovative program developed and implemented at CHOP, to maximize the meaningful engagement of families in all aspects of the pediatric healthcare delivery system. Engaging parents and youth in research is a major focus of this work.

Patients and families are at the heart of our research at Children’s Hospital of Philadelphia Research Institute. Now, they’re also at the pulse, participating in all phases of research projects, from the grant proposal to the dissemination of research findings. I’d like to introduce you to a new program called Research Family Partners that is helping to ensure that the patient and family voice is as vital to research as its methodology.

While our researchers always have conducted studies that they believe will advance pediatric care, in recent years, key agencies that fund research such as the National Institutes of Health, the Agency for Healthcare Research and Quality, and the Patient-Centered Outcomes Research Institute have begun asking a pertinent question: How do investigators know if this research will be important to the patients’ and families’ lives that it affects? The answer also is key to our mission at CHOP of delivering patient and family-centered care.

CHOP has long been a leader in patient and family-centered care, with the creation of a Family Advisory Council in 1996. Since then, our family volunteers have played an integral role in all of the work we do throughout the hospital. They are valued partners who bring diverse viewpoints that influence many aspects of patients’ experiences such as our buildings’ playful design or how we implement patient safety policies during flu season.

The Research Family Partners program promotes this same high level of patient and family engagement to achieve the best and safest research outcomes. It is a valuable resource that any researcher at CHOP can utilize. So far, we have about 25 Research Family Partners who contribute authentically to the development and conduct of research studies, and our number of volunteers continues to grow with the heightened demand to involve patients and families in research in a meaningful way.

The most frequent request that we receive is to create a family advisory group specific to a study. In this role, Research Family Partners present their various perspectives to help guide the research team. They give first-line information to make certain research is useful to patients and families.

Housed in our Patient and Family-Centered Care Office, the Research Family Partners program is available to recruit and orient families into research projects, and we provide them training and mentorship. We explain the project’s background and implications, how the research process works, and clearly define their roles and expectations. Since our families come from all different professional backgrounds and levels of education, we help the research teams translate some of the acronyms and terminology into “layman’s terms.”

The first time I joined a study team as a Research Family Partner, it honestly was a little intimidating to ask questions in front of a room filled with other research stakeholders, including clinicians, researchers, patient advocates, and policymakers. As I mentor new Research Family Partners, I help them to feel comfortable with speaking up because they have unique insights that study teams want to hear. In their daily lives, patients and families encounter the health challenges and concerns that researchers are trying to solve, so their firsthand experiences can be critical to helping the group understand a study’s feasibility and think about ways that could improve its likelihood of success.

The value of our Family Research Partners’ voice and feedback has been tremendous. We hear this anecdotally through our CHOP research teams, who tell us they see a new dimension of the health conditions they study: the family’s lived experience. Through this lens, research teams are able to develop novel approaches for evaluating health outcomes and ask research questions that are relevant to families.

For instance, a researcher studying autism spectrum disorder (ASD) might start out asking, “What problems would you like your child’s treatment to address?” With an approach informed by Research Family Partners, the question could evolve to become more specific and take into consideration where the child spends most of the day: “How does your child’s ASD impact his/her life at school and how he/she communicates with teachers and friends?”

CHOP Research Institute has become a leader in this growing area of engagement in research. Other institutions have been seeking our advice on how to incorporate the patient and family voice in research, as they are just beginning this journey. Most recently, we presented at the “Know Your Community Conference” held on the Research Institute’s campus where researchers from area hospitals inquired about how our Research Family Partners program operates. We also have advised national pediatric research networks on how to start creating patient and family engagement committees.

We have established an easily accessible group of Research Family Partners who we can match to meet researchers’ specific study needs. If we do not have a Research Family Partner on board who has knowledge of the diagnosis that is being studied, we have connections with many pediatric disease advocacy groups and can help researchers find families who want to become more involved in research endeavors.

Gone are the days when patients and families were considered to be “research subjects.” We’ve created a community where patients and families are true research participants collaborating as partners with researchers to produce reliable study findings that make a difference for our children.

For more information about our Research Family Partners Program, please contact Amy Kratchman at kratchmana@email.chop.edu or Anne Marie Richards at richardsam@email.chop.edu.

The post Research Family Partners Program Brings New Dimension to Research Studies appeared first on Cornerstone - CHOP Research Institute Blog.

Translational Research Workshop Bridges Gap Between Bench Research and Clinic

Fri, 10/13/2017 - 13:15

If you glance at a diagram of the continuum of translational research, the arrows point orderly to five phases — from basic research to improving population health. Rarely, however, is the business of discovery so neatly aligned. It takes unexpected twists and turns, as attendees at this week’s Children’s Hospital of Philadelphia Translational Research Workshop for Basic Scientists heard from experienced investigators who shared lessons that they’ve learned while pursuing their scientific endeavors.

Twenty workshop participants, including junior faculty as well as postdocs and grad students, came from CHOP’s campus, local institutions, and science laboratories from across the U.S., including California, Texas, Boston, and Puerto Rico, for the intensive three-day educational program that introduced them to the latest methods and approaches in cutting-edge translational research at CHOP Research Institute.

One attendee joked that her reason for traveling so far to take part in the workshop was that, “I mainly work with mice, so I’m excited to see humans.”

Translational research is the process of turning observations in the lab, clinic, and community into interventions to improve the health of individuals and the public, from diagnostics and therapeutics, to medical procedures, to behavioral change. It’s easier to put into words than into practice.

“Translation may seem like an automatic part of research and medical practice, but in reality it’s a major stumbling block in science, medicine, and public health,” said the workshop’s host, Nancy Spinner, PhD, chief of the division of Genomic Diagnostics at CHOP and professor of Pathology and Genetics at the Perelman School of Medicine at the University of Pennsylvania.

The workshop, which was organized by the Institute’s Office of Postdoctoral Affairs, exposed attendees to unique aspects of CHOP’s scientific enterprise that are aimed at overcoming these obstacles. In a conference room at the Colket Translational Research Building, they listened to lectures given by a diverse group of presenters. Their varied backgrounds demonstrated how it often takes the convergence of a mix of disciplines to reach breakthroughs in translational research. The speakers covered a wide range of topics from the nuances of quality improvement science — a new field that is gaining attention — to how and why CHOP physician-scientists have spent a decade unraveling the genetic basis of congenital heart defects.

Alexion pharmaceuticals, a global biopharmaceutical company that focuses on rare diseases and orphan drugs, sponsored the workshop. Stephen Uden, MB, who leads research at Alexion, gave a presentation that described how new discovery ideas proceed through the drug and device development pipeline, from bench to market.

Dennis Durbin, MD, MSCE, assistant vice president and chief clinical research officer of the Research Institute, spoke about what is “under the hood” of a major pediatric research institution, which has a framework in place for clinical research practices through the Clinical Research Support Office.

“One of the nice things about being a hospital-based research institute, is that we have a ‘bench to bedside’ concept,” Dr. Durbin said. “Close to everything we do should somehow be connected to advancing child health… At CHOP we’re supportive of our basic science program, but we also have a full spectrum of research going on here.”

Dr. Durbin described the 20 years that he devoted to population health research as a clinical epidemiologist interested in motor vehicle safety. The discoveries he made with his team at the Center for Injury Research and Prevention — along with other research stakeholders such as auto manufacturers, auto insurers, seatbelt manufacturers, and car seat makers — have saved 15,000 children’s lives over the last 15 years.

Behind the science success stories, attendees also heard how the presenters’ career paths revealed themselves, sometimes through good fortune and by being open to new opportunities. Dr. Spinner shared that she has an undergraduate degree in anthropology. Her passion to pursue graduate school and specialize in the field of genomics began when she traded in a college job scooping ice cream for a work study position in the lab of Jeffrey Hall, now a retired professor from Brandeis University, who shared the 2017 Nobel Prize in medicine for his research that revealed new insights about circadian rhythms, our bodies’ biological clock.

Dr. Spinner recently celebrated her 25th anniversary at CHOP/Penn and called the campus a “fantastic place for me… Part of the reason I’ve been so thrilled to be here is we have basic science, an outstanding university, a medical school, and a nursing school. We have people from all walks of science, and over my career, I’ve collaborated with experts from many of these places.”

The workshop group was invited to see some of these valuable resources firsthand. They took a hospital tour; visited its Center for Human Phenomic Science, which is the home base for many of the 600 clinical trials being conducted at CHOP; and met the staff at the Center for Autism Research.

They were introduced to the inner workings of CHOP’s Institutional Review Board (IRB), which is the hospital’s research ethics committee. Members of the IRB have expertise in scientific areas, the conduct of research, federal and state laws that govern research, CHOP policies, and the rights and welfare of study participants. Workshop attendees participated in a mock IRB session that gave them an interactive look at how investigators and reviewers work through potential sticking points before a clinical trial gets underway.

In a heartwarming presentation, attendees also heard the perspectives of a patient and her family who benefited from a novel drug that evolved from a translational research approach. In 2009, a team of CHOP oncologists, geneticists, and colleagues reported that they had identified a major familial neuroblastoma predisposition gene, called anaplastic lymphoma kinase gene (ALK). They developed robust scientific models that demonstrated it was an important drug target, which helped to gain the interest of a pharmaceutical company that supported a clinical trial to prove the safety and efficacy of a ALK inhibitor specially formulated for young children.

Edie Gilger, was diagnosed with the rare, inherited form of neuroblastoma, a cancer of the nerve tissue, at just 6 months old. With the help of the experimental drug offered in the clinical trial led by Yael Mosse´, MD, a CHOP pediatric oncologist and physician-scientist specializing in neuroblastoma, Edie fought off the tumors growing in her spine and belly. Now 8-years-old, Edie’s scans at CHOP this week confirmed that she has remained cancer-free for 6 ½ years. Her mother, Emily Gilger, who was diagnosed with neuroblastoma about a year after Edie’s cancer went into remission, also was treated successfully at CHOP/Penn with a different version of an ALK inhibitor.

“Obviously, we owe our lives to things that are being done in the lab by people who take the time to do the research for these advanced studies that are saving hopefully many other children’s lives around the world,” Emily Gilger said.

The post Translational Research Workshop Bridges Gap Between Bench Research and Clinic appeared first on Cornerstone - CHOP Research Institute Blog.

Mind Meets Body in New Lupus Research: Q & A With Andrea Knight, Rheumatology Physician

Wed, 10/11/2017 - 08:05
Division of Rheumatology

When children have lupus, they often deal with more than just the physical burden of the autoimmune condition. Along with the swollen joints, skin rashes, ulcers, kidney disease and chest pain common to lupus, many of our pediatric patients also carry with them depression, anxiety, memory problems, and brain fog – all of which can adversely affect their school and social lives. As the recipient of a Novel Research Grant from the Lupus Research Alliance, Andrea Knight, MD, a physician in the division of Rheumatology, is working to better understand why children with systemic lupus erythematosus (SLE) experience mental health problems. Novel Research Grants aim to support investigators in early stage research projects that involve “creative and innovative approaches” to major issues in lupus, according to the research alliance’s website.

Dr. Knight’s research will give new depth to current clinical knowledge of lupus and help physicians treat neuropsychiatric conditions earlier and more effectively. Her previous research has found that children with SLE have high rates of depression, anxiety, and suicidal thoughts, but most of these children have not had mental health evaluation or treatment.

We spoke with Dr. Knight on how we can best identify and address mental health concerns in children with lupus and the next steps for improving their outcomes.

What do we know about the link between lupus and mental health so far?

For children and adolescents with lupus, we know that they are at higher risk for depression and anxiety than their healthy peers, but they have a similar risk to kids with other chronic conditions such as Type 1 diabetes or juvenile diabetes. So, within the context of lupus, there is an open question about whether the depression and anxiety risk is a comorbidity related to having a chronic disease, or whether it’s actually related to the inflammation that affects the central nervous system in the disease. That is the clinical question that we’re interested in.

How many children with SLE experience neuropsychiatric conditions?

The number of children with lupus who experience depression and anxiety really is quite high. It’s basically up to a third of those with the condition, and some studies will indicate even higher – 50 or 60 percent. Again, we’re not really sure whether that depression and anxiety is a comorbidity related to having a chronic disease, or if it is related to the brain inflammation.

What do we currently know about biological mechanisms like brain inflammation that might underlie these neuropsychiatric symptoms?

I think that with brain inflammation in lupus, there are a number of different mechanisms that have been proposed. Some people think that it may be due to antibody-related inflammation that might be localized, meaning that the antibody is acting on brain tissue to cause inflammation.

Then there are other mechanisms that are proposed that involve indirect inflammation: Perhaps the inflammation is due to cytokine release or other inflammatory mediators, either originating in the brain or elsewhere in the body, getting across the blood-brain barrier into the brain. Another potential mechanism involves vascular changes and alterations of blood flow in the brain. So, we’re not sure whether those mechanisms act individually, together, separately, or whether there’s another mechanism that we’re not really aware of.

Can you describe how you’re moving forward with your Novel Research Grant?

Well, building on a few studies that have been done by colleagues at other institutions, we’ve realized that using advanced brain MRI neuroimaging techniques can go past what we do clinically with conventional MRI to identify changes that are happening in the brain. So, what we’re looking at in children with SLE are structural changes in the different regions of the brain, as well as differences in function of brain networks, and also changes in brain development that happen over time, in comparison to healthy peers. We are looking at how these changes on the advanced imaging correlate to the emotional or psychological dysfunction that we would see in those who have depression and anxiety, and if they differ for children with SLE.

And then, bringing in the inflammatory mechanisms, we are looking at proteins in the blood that are implicated in brain inflammation and their correlation to the imaging to psychological manifestations. We hope to get some insight into a possible inflammatory signature that might help us to determine which kids are having depression and anxiety as part of the inflammation, versus as a comorbidity related to the burden of chronic disease.

What are the wider implications after your research is done?

I think there’s a couple of things. One, increasing our understanding of the mechanism, since we really still don’t quite understand the mechanisms of brain inflammation and brain effects of lupus in these children, could have broader application to other brain inflammatory disease, as well as the contribution of inflammation to primary psychiatric disorders. Two, it would be a goal to take that understanding and apply it to clinical management to try to inform our clinical decision-making, so that we can really offer more personalized and targeted therapies addressing emotional disturbances and neurocognitive function for these kids.

Do you have any guidance for physicians treating children with lupus?

I think that in our pediatric lupus population it is very important for all of the clinicians involved in lupus care, from rheumatologists to the different specialists, including a child’s primary care doctor, to be aware that emotional distress and psychological dysfunction like depression and anxiety are relatively common in likely a third of these patients. Early intervention is really key. And then as we – through ongoing research – become more fine-tuned with our understanding of the mechanisms, our diagnostic tools and treatment tools will hopefully be able to further improve the outcomes for these kids. One of the things that can help with this is routine screening of these children and adolescents for things like depression and anxiety and then trying to get them services earlier rather than later.

When do you hope to get findings out?

The recruitment for this study is scheduled for two years, so I am aiming to have some preliminary data within that time frame and get the findings out as soon as possible. Just from a logistical standpoint with the MRI study, this is relatively new area for me, so I don’t have a feel quite for how our recruitment will go, but in a couple of years, we’ll have something cooking!

Is there anything else you want to add?

It’s exciting to have interest from the Lupus Research Alliance in this kind of work, and I think it’s an area that’s really ripe for research, so hopefully this funding will be a building block to future projects and also collaborative projects with other researchers who are interested in this topic.

Tags: Andrea Knight, anxiety, depression, lupus, Lupus Research Alliance, neuropsychiatric symptoms, Novel Research Grant, systemic lupus erythematosus

Mind Meets Body in New Lupus Research: Q & A With Andrea Knight, Rheumatology Physician

Wed, 10/11/2017 - 03:00

When children have lupus, they often deal with more than just the physical burden of the autoimmune condition. Along with the swollen joints, skin rashes, ulcers, kidney disease and chest pain common to lupus, many of our pediatric patients also carry with them depression, anxiety, memory problems, and brain fog – all of which can adversely affect their school and social lives. As the recipient of a Novel Research Grant from the Lupus Research Alliance, Andrea Knight, MD, a physician in the division of Rheumatology, is working to better understand why children with systemic lupus erythematosus (SLE) experience mental health problems. Novel Research Grants aim to support investigators in early stage research projects that involve “creative and innovative approaches” to major issues in lupus, according to the research alliance’s website.

Dr. Knight’s research will give new depth to current clinical knowledge of lupus and help physicians treat neuropsychiatric conditions earlier and more effectively. Her previous research has found that children with SLE have high rates of depression, anxiety, and suicidal thoughts, but most of these children have not had mental health evaluation or treatment.

We spoke with Dr. Knight on how we can best identify and address mental health concerns in children with lupus and the next steps for improving their outcomes.

What do we know about the link between lupus and mental health so far?

For children and adolescents with lupus, we know that they are at higher risk for depression and anxiety than their healthy peers, but they have a similar risk to kids with other chronic conditions such as Type 1 diabetes or juvenile diabetes. So, within the context of lupus, there is an open question about whether the depression and anxiety risk is a comorbidity related to having a chronic disease, or whether it’s actually related to the inflammation that affects the central nervous system in the disease. That is the clinical question that we’re interested in.

How many children with SLE experience neuropsychiatric conditions?

The number of children with lupus who experience depression and anxiety really is quite high. It’s basically up to a third of those with the condition, and some studies will indicate even higher – 50 or 60 percent. Again, we’re not really sure whether that depression and anxiety is a comorbidity related to having a chronic disease, or if it is related to the brain inflammation.

What do we currently know about biological mechanisms like brain inflammation that might underlie these neuropsychiatric symptoms?

I think that with brain inflammation in lupus, there are a number of different mechanisms that have been proposed. Some people think that it may be due to antibody-related inflammation that might be localized, meaning that the antibody is acting on brain tissue to cause inflammation.

Then there are other mechanisms that are proposed that involve indirect inflammation: Perhaps the inflammation is due to cytokine release or other inflammatory mediators, either originating in the brain or elsewhere in the body, getting across the blood-brain barrier into the brain. Another potential mechanism involves vascular changes and alterations of blood flow in the brain. So, we’re not sure whether those mechanisms act individually, together, separately, or whether there’s another mechanism that we’re not really aware of.

Can you describe how you’re moving forward with your Novel Research Grant?

Well, building on a few studies that have been done by colleagues at other institutions, we’ve realized that using advanced brain MRI neuroimaging techniques can go past what we do clinically with conventional MRI to identify changes that are happening in the brain. So, what we’re looking at in children with SLE are structural changes in the different regions of the brain, as well as differences in function of brain networks, and also changes in brain development that happen over time, in comparison to healthy peers. We are looking at how these changes on the advanced imaging correlate to the emotional or psychological dysfunction that we would see in those who have depression and anxiety, and if they differ for children with SLE.

And then, bringing in the inflammatory mechanisms, we are looking at proteins in the blood that are implicated in brain inflammation and their correlation to the imaging to psychological manifestations.   We hope to get some insight into a possible inflammatory signature that might help us to determine which kids are having depression and anxiety as part of the inflammation, versus as a comorbidity related to the burden of chronic disease.

What are the wider implications after your research is done?

I think there’s a couple of things. One, increasing our understanding of the mechanism, since we really still don’t quite understand the mechanisms of brain inflammation and brain effects of lupus in these children, could have broader application to other brain inflammatory disease, as well as the contribution of inflammation to primary psychiatric disorders. Two, it would be a goal to take that understanding and apply it to clinical management to try to inform our clinical decision-making, so that we can really offer more personalized and targeted therapies addressing emotional disturbances and neurocognitive function for these kids.

Do you have any guidance for physicians treating children with lupus?

I think that in our pediatric lupus population it is very important for all of the clinicians involved in lupus care, from rheumatologists to the different specialists, including a child’s primary care doctor, to be aware that emotional distress and psychological dysfunction like depression and anxiety are relatively common in likely a third of these patients. Early intervention is really key. And then as we –  through ongoing research – become more fine-tuned with our understanding of the mechanisms, our diagnostic tools and treatment tools will hopefully be able to further improve the outcomes for these kids. One of the things that can help with this is routine screening of these children and adolescents for things like depression and anxiety and then trying to get them services earlier rather than later.

When do you hope to get findings out?

The recruitment for this study is scheduled for two years, so I am aiming to have some preliminary data within that time frame and get the findings out as soon as possible. Just from a logistical standpoint with the MRI study, this is relatively new area for me, so I don’t have a feel quite for how our recruitment will go, but in a couple of years, we’ll have something cooking!

Is there anything else you want to add?

It’s exciting to have interest from the Lupus Research Alliance in this kind of work, and I think it’s an area that’s really ripe for research, so hopefully this funding will be a building block to future projects and also collaborative projects with other researchers who are interested in this topic.

The post Mind Meets Body in New Lupus Research: Q & A With Andrea Knight, Rheumatology Physician appeared first on Cornerstone - CHOP Research Institute Blog.

From Baking to Biomedicine: Nick Pautler Won’t Let ALL Define Him

Mon, 10/09/2017 - 08:05
Cancer Center, Cancer Immunotherapy program

Editor’s Note: This occasional blog series features stories of CHOP research heroes who have participated in clinical research studies. Without the generosity and dedication of families, patients, and members of the public who take the time to be a part of research, many trials would not succeed.

Nick Pautler, a biomedical engineering student at the University of Delaware, can tell you how a lot of things work – from the microbial science behind baking sourdough bread, to the intricacy of model railroads, to the way that an army of re-engineered T-cells worked hard to fight the cancer cells in his body this past year.

Diagnosed with acute lymphoblastic leukemia (ALL) in his junior year of high school, Nick received immunotherapy through chimeric antigen receptor (CAR) T-cell clinical trials at Children’s Hospital of Philadelphia. While his fight against ALL – the most common form of childhood leukemia – hasn’t been easy, Nick has kept a level head and positive outlook throughout.

On Sunday, Sept. 24, Nick represented thousands of young people diagnosed with cancer as a 2017 Patient Ambassador at the CHOP Parkway Run and Walk, a fun-filled event that raised over $1.1 million for cancer research and care at CHOP. Nominated as an Ambassador by the doctors and nurses who treat him at CHOP, Nick stood on stage in front of thousands, taking on the important role because he wanted to “help make the event more personal” and give back to CHOP. Even after the Parkway Run and Walk, however, Nick continues to help put a personal face to oncology research and support scientific discoveries by sharing his story – one that he hopes will inspire other patients and families.

From Baking to Biomedicine

“From the beginning, I always asked the doctors, ‘How does this work?’ or ‘Why do we do this?’ to make it all a learning experience,” said Nick, when describing his experience in the CHOP cancer immunotherapy trial.

It’s clear that making do with difficult situations is something he’s quite good at. After his initial ALL diagnosis, Nick began rounds of chemotherapy at the CHOP Buerger Center and began to take prednisone, a steroid drug taken during chemo that can make people hungry more often than normal. While at home, Nick stayed active by starting to bake and cook, hobbies born out of prednisone’s side effects. He graduated from baking simple breads to trying his hand at sourdough, finding the way that the micro-organisms in the flour multiply (a “living breathing ingredient” he explains) very cool.

“It was helpful to have a distraction for most of the time, because I found that when I didn’t, I would sometimes have moments where I would melt down, because the situation was frustrating,” Nick said. “Cancer is a part of who you are. And you can’t change that, but don’t let it define you. Don’t let it shape what you’re going to do, or not do. Don’t pass up any opportunities.”

By November of 2016, the chemo still hadn’t knocked down Nick’s cancer to remission. Earlier that year, one of Nick’s doctors, Charles Bailey, MD, attending physician in the Cancer Center at CHOP, had suggested Nick have his T-cells collected through a process called apheresis as a safeguard, just in case immunotherapy indeed became an option. Nick and his family began a conversation about CAR-T cell therapy.

Through discussions with Dr. Bailey, Stephan Grupp, MD, director of the Cancer Immunotherapy Program, and other doctors at CHOP, Nick learned the science and specifics of how CAR-T cell therapy worked. As it turns out, his education on the engineered T-cells would contribute to his decision to choose biomedical engineering as his major at the University of Delaware.

“After a week of chemo to make room for the engineered T- cells, I received a small infusion of T-cells followed by a larger one,” Nick explained.

He had a fever for about 10 days, but no other side effects. After staying at CHOP for the infusions, he would come in for monthly follow-ups to receive IV immunoglobulin, which provides patients with the antibodies they lose during treatment – but need to ward off infections.

“The way that the immunotherapy works, the T-cells go after all of my B-cells, whether they are the leukemic version or a regular healthy cell. However, the B-cells also make antibodies – and antibodies are pretty important,” Nick said.

While the engineered T-cells did drive Nick’s leukemia into remission, after a few months, they weren’t able to stick around in his body, and their effects decreased. After taking the summer to decide, Nick chose to participate in another CAR-T cell trial at CHOP later this year – one that will evaluate the use of humanized CART19 cells (or huCART19 cells) in patients with relapsed or refractory CD19+ leukemia and lymphoma who were treated with a B-cell directed engineered cell therapy product before. The hope is to extend the time the cells stick around and help more patients avoid the risks of bone marrow transplant.

Moving Forward and Making Plans

Though his treatment journey will continue, Nick has some advice to share with other young patients who might have just received their ALL diagnosis and feel hesitant about coming to CHOP.

“If you’re afraid – whether you’re coming to CHOP for treatment or some sort of research – whether it’s a trial or just testing – the staff of CHOP wants to help you,” Nick said. “And if you’re helping with research, you’re helping other people.”

During his chemo treatments, Nick stayed on top of his high school classes by attending lectures via FaceTime when he couldn’t physically make it to class, and he graduated as valedictorian of his senior cohort. While at home, he kept busy by constructing model railroads for as long as his hands could stay steady despite the side effects from the chemo. He also experimented with baking using healthier ingredients like whole wheat flour and took long drives along the scenic back roads near his town.

“My first thought was, ‘Why me?’” Nick said. “But going forward from that, I have gotten to ‘What now?’ Because if you’re afraid of the whole situation, you have to remember you’re going through it now for a short period of time so that in the end, you can have a long life with memorable experiences, and build those model trains somewhere in the future.”

Cancer might be a part of Nick’s life, but he’s taking control of it in a brave and inspiring way: He has his eye on a career in healthcare. Of all the sciences, biology ranks as his favorite. His dream job, however, isn’t to be a physician. Nick plans to pursue cancer research while at the University of Delaware.

“I’d rather be working in the lab doing research and making discoveries,” said Nick, a true “research hero,” in every sense of the word.

Learn more:

Go to the CHOP Clinical Trial Finder to learn more about participating in clinical trials.

Read more about CHOP’s Cancer Immunotherapy program here.

Tags: actue lymphoblastic leukemia, ALL, Cancer Center, cancer immunotherapy, CAR T-cell, clinical trials, L. Charles Bailey, Nick Pautler, Parkway Run, research hero, Stephan Grupp

From Baking to Biomedicine: Nick Pautler Won’t Let ALL Define Him

Mon, 10/09/2017 - 03:00

Editor’s Note: This occasional blog series features stories of CHOP research heroes who have participated in clinical research studies. Without the generosity and dedication of families, patients, and members of the public who take the time to be a part of research, many trials would not succeed.

Nick Pautler, a biomedical engineering student at the University of Delaware, can tell you how a lot of things work – from the microbial science behind baking sourdough bread, to the intricacy of model railroads, to the way that an army of re-engineered T-cells worked hard to fight the cancer cells in his body this past year.

Diagnosed with acute lymphoblastic leukemia (ALL) in his junior year of high school, Nick received immunotherapy through chimeric antigen receptor (CAR) T-cell clinical trials at Children’s Hospital of Philadelphia. While his fight against ALL – the most common form of childhood leukemia – hasn’t been easy, Nick has kept a level head and positive outlook throughout.

On Sunday, Sept. 24, Nick represented thousands of young people diagnosed with cancer as a 2017 Patient Ambassador at the CHOP Parkway Run and Walk, a fun-filled event that raised over $1.1 million for cancer research and care at CHOP. Nominated as an Ambassador by the doctors and nurses who treat him at CHOP, Nick stood on stage in front of thousands, taking on the important role because he wanted to “help make the event more personal” and give back to CHOP.  Even after the Parkway Run and Walk, however, Nick continues to help put a personal face to oncology research and support scientific discoveries by sharing his story – one that he hopes will inspire other patients and families.

From Baking to Biomedicine

“From the beginning, I always asked the doctors, ‘How does this work?’ or ‘Why do we do this?’ to make it all a learning experience,” said Nick, when describing his experience in the CHOP cancer immunotherapy trial.

It’s clear that making do with difficult situations is something he’s quite good at. After his initial ALL diagnosis, Nick began rounds of chemotherapy at the CHOP Buerger Center and began to take prednisone, a steroid drug taken during chemo that can make people hungry more often than normal. While at home, Nick stayed active by starting to bake and cook, hobbies born out of prednisone’s side effects. He graduated from baking simple breads to trying his hand at sourdough, finding the way that the micro-organisms in the flour multiply (a “living breathing ingredient” he explains) very cool.

“It was helpful to have a distraction for most of the time, because I found that when I didn’t, I would sometimes have moments where I would melt down, because the situation was frustrating,” Nick said. “Cancer is a part of who you are. And you can’t change that, but don’t let it define you. Don’t let it shape what you’re going to do, or not do. Don’t pass up any opportunities.”

By November of 2016, the chemo still hadn’t knocked down Nick’s cancer to remission. Earlier that year, one of Nick’s doctors, Charles Bailey, MD, attending physician in the Cancer Center at CHOP, had suggested Nick have his T-cells collected through a process called apheresis as a safeguard, just in case immunotherapy indeed became an option. Nick and his family began a conversation about CAR-T cell therapy.

Through discussions with Dr. Bailey, Stephan Grupp, MD, director of the Cancer Immunotherapy Program, and other doctors at CHOP, Nick learned the science and specifics of how CAR-T cell therapy worked. As it turns out, his education on the engineered T-cells would contribute to his decision to choose biomedical engineering as his major at the University of Delaware.

“After a week of chemo to make room for the engineered T- cells, I received a small infusion of T-cells followed by a larger one,” Nick explained.

He had a fever for about 10 days, but no other side effects. After staying at CHOP for the infusions, he would come in for monthly follow-ups to receive IV immunoglobulin, which provides patients with the antibodies they lose during treatment – but need to ward off infections.

“The way that the immunotherapy works, the T-cells go after all of my B-cells, whether they are the leukemic version or a regular healthy cell. However, the B-cells also make antibodies – and antibodies are pretty important,” Nick said.

While the engineered T-cells did drive Nick’s leukemia into remission, after a few months, they weren’t able to stick around in his body, and their effects decreased. After taking the summer to decide, Nick chose to participate in another CAR-T cell trial at CHOP later this year – one that will evaluate the use of humanized CART19 cells (or huCART19 cells) in patients with relapsed or refractory CD19+ leukemia and lymphoma who were treated with a B-cell directed engineered cell therapy product before. The hope is to extend the time the cells stick around and help more patients avoid the risks of bone marrow transplant.

Moving Forward and Making Plans

Though his treatment journey will continue, Nick has some advice to share with other young patients who might have just received their ALL diagnosis and feel hesitant about coming to CHOP

“If you’re afraid – whether you’re coming to CHOP for treatment or some sort of research – whether it’s a trial or just testing – the staff of CHOP wants to help you,” Nick said. “And if you’re helping with research, you’re helping other people.”

During his chemo treatments, Nick stayed on top of his high school classes by attending lectures via FaceTime when he couldn’t physically make it to class, and he graduated as valedictorian of his senior cohort. While at home, he kept busy by constructing model railroads for as long as his hands could stay steady despite the side effects from the chemo. He also experimented with baking using healthier ingredients like whole wheat flour and took long drives along the scenic back roads near his town.

“My first thought was, ‘Why me?’” Nick said. “But going forward from that, I have gotten to ‘What now?’ Because if you’re afraid of the whole situation, you have to remember you’re going through it now for a short period of time so that in the end, you can have a long life with memorable experiences, and build those model trains somewhere in the future.”

Cancer might be a part of Nick’s life, but he’s taking control of it in a brave and inspiring way: He has his eye on a career in healthcare. Of all the sciences, biology ranks as his favorite. His dream job, however, isn’t to be a physician. Nick plans to pursue cancer research while at the University of Delaware.

“I’d rather be working in the lab doing research and making discoveries,” said Nick, a true “research hero,” in every sense of the word.

Learn more:

Go to the CHOP Clinical Trial Finder to learn more about participating in clinical trials.

Read more about CHOP’s Cancer Immunotherapy program here.

The post From Baking to Biomedicine: Nick Pautler Won’t Let ALL Define Him appeared first on Cornerstone - CHOP Research Institute Blog.

Share This