Modernizing Mitochondrial Medicine to Improve Patient Experience


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Image of Dr. Marni Falk

Fifteen years ago, most clinicians hadn’t heard of mitochondrial disease: Inherited dysfunction in our body’s miniscule cellular batteries can wreak chaos in different organs and regions of the body – from neurologic problems to cardiac, vision, gastrointestinal, hearing, and renal problems, as well as any combination of these. Thus, a mitochondrial disease might show up in any clinical department, and at any doctor’s door, but not every doctor or department is trained to identify it as such.

Since its conception in 2006, the Mitochondrial Medicine Center has made significant headway in addressing the vagueness of these highly variable genetic conditions, yet the prevalence and heterogeneity of mitochondrial diseases continues to grow. With Frontier Program designation and funding from Children’s Hospital of Philadelphia, Marni Falk, MD, director of the Mitochondrial Medicine Frontier Program, said that her team will have the resources to push the field forward in several complementary domains.

First, it will improve communication between the wide range of clinicians who provide care for patients with a mitochondrial disorder. Next, researchers will find new ways to detect and diagnose these complex conditions. Finally, they will develop and test new treatments that meaningfully improve the health and lives of mitochondrial disease patients.

“The CHOP Mitochondrial Medicine Frontier Program strives to be a world leader, integrating precise diagnostic capabilities with cutting-edge translational research to better understand mitochondrial disease,” Dr. Falk said. “This vision will encourage novel diagnostic and therapeutic development, clinical research trials, and improvements in patient care and outcomes.”

Dr. Falk believes that better communication between clinicians will help prevent patients from suffering through long diagnostic odysseys. With a strong integrated network, doctors will have the support they need to evaluate and care for complex mitochondrial patients who may have, on average, 16 serious medical concerns.

Frontier designation has already helped to attract more clinical personnel, including Amy Goldstein, MD, newly appointed clinical director of the Mitochondrial Medicine Frontier Program, in order to increase the clinical capacity to see patients and provide access to nurses, a nurse practitioner, dietitian, financial counselor, and dedicated clinical trial coordinators.

To streamline a patient’s experience, the Mitochondrial Medicine Frontier Program prioritizes thorough preparation. One of four experienced primary mitochondrial medicine doctors will be the entry point for each patient. A team member will review a patient’s records and then speak with them in detail before a first visit. From there, focused referrals will be made across the institution for necessary routine screens such as to Cardiology, Ophthalmology, and Audiology, as well as to one of a cadre of expert specialists across 14 CHOP divisions who can address unique organ-focused issues that may be present.

They will tailor a diagnostic or therapeutic plan to each patient’s unique needs. The ultimate goal is to model mitochondrial medicine in the image of a cancer center.

“Mitochondrial disease patients should expect a diagnosis and clear explanation of their very complicated disorders, and then expect to go onto a formal treatment protocol, with iterative protocols trialed until each patient’s health is improved in the different domains that they have,” Dr. Falk said.

With over 300 different gene disorders now recognized to cause mitochondrial disease, and probably hundreds more awaiting discovery, Frontier designation will help to bring in-house clinical diagnostic testing for the genetic and broader biochemical disruption that occurs in mitochondrial disease. These diagnostic tools will look at both the regular nuclear genome and mitochondrial DNA, as well as utilize biochemical tests in the blood, urine, tissues, and cells. The Center will also improve some of the available pathology tests for evaluating tissue specimens, in a less invasive or more sophisticated way than currently available.

“Precision mitochondrial medicine is within reach, where we strive for effective ways to make each diagnosis, be certain of it, and devise appropriate clinical management teams and targeted therapies tested in robust clinical trials aimed at improving each patient’s overall health outcomes,” Dr. Falk said.

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