The Multipronged Mission of CHOP’s Mitochondrial Medicine Frontier Program

Published on in Children's Doctor

The field of mitochondrial medicine has exploded since the first recognition only 3 decades ago by our esteemed CHOP colleague Douglas Wallace, PhD, that a genetic cause for multisystem disease may be rooted in mitochondrial DNA. Now with a veritable army of clinicians and researchers from across the globe working to advance mitochondrial medicine, we stand on the verge of having precision therapies for an ever-growing cadre of inherited disorders rooted in mutations in more than 350 genes across both the nuclear and mitochondrial genomes, as well as a wide spectrum of secondary disorders that share an underlying deficiency of cellular energy.

To transform this biomedical knowledge explosion into tangible improvements in patients’ lives, Mitochondrial Medicine was selected as a CHOP Frontier Program in 2017. This unparalleled institutional commitment is enabling us to rapidly improve and expand state-of-the-art care in a truly complex disease area that involves every medical specialty. Indeed, we now recognize that each mitochondrial disease patient suffers on average 16 major debilitating symptoms. Too often, clinicians must address each problem in isolation, without the benefit of broader perspective of how it fits into the holistic picture of a patient’s life. The Mitochondrial Medicine Frontier Program (MMFP) offers a unique opportunity to improve both clinical and cost efficiencies for highly complex patients across all ages, and to realize precision care by effectively translating scientific advances to improve important patient outcomes.

The MMFP mission is to become the premier center in the world to provide integrated multidisciplinary care, advance diagnostics and therapeutics, and individualize basic, translational, and clinical research to improve the health of patients of all ages living with mitochondrial disease (See Figure 2). Our clinical volumes have increased 5-fold in the last 2 years, now approaching nearly 1000 annual visits for suspected or known mitochondrial disease in patients from 44 states and 8 countries. We assist patients and families to determine if they have mitochondrial disease, and for those who do, to participate in their long-term clinical care, partnered with access to cutting-edge research opportunities to better understand and treat their disease.

Mitochondrial Medicine Frontier Program – Schematic Overview

Figure 2: Mitochondrial Medicine Frontier Program – Schematic Overview

Access time for initial MMFP clinic evaluations has dropped to under 1 to 2 months, with emergent clinic appointments accommodated within days. We have recruited and partnered with world-class colleagues to provide integrated multidisciplinary care to both outpatients and inpatients. The MMFP now has 4 “primary mitochondrial disease physicians” specialized in genetics, metabolism, and/or neurology who review patients’ complex records and histories and make coordinated recommendations. Care is supported by an integrated team of 3 genetic counselors, 2 registered nurses, administrative support staff, a mitochondrial dietitian, physical therapists, exercise physiology assessment, a financial counselor, and a social worker. In addition, expert mitochondrial disease specialists are accessible to patients in 15 different clinical divisions at CHOP and half a dozen more at the Hospital of University of Pennsylvania — physicians who are knowledgeable about and committed to improving integrated clinical care for patients with mitochondrial disease.

The MMFP has also shifted the paradigm of what is possible to meaningfully treat mitochondrial disease. We have implemented a suite of objective outcome assessments and surveys to regularly evaluate and track each patient over time. Committed to making cutting-edge therapies available to our patients until all symptoms are treated or cured, our 4th and 5th pharma-sponsored treatment trials are on track to launch in early 2019. We embrace a paradigm that evaluates serial therapeutics in small cohort and personalized clinical trials on patient-prioritized outcome measures.

To efficiently develop improved diagnostics, biomarkers, and therapies, the MMFP actively partners with a range of funders from families to government to pharma. The latest genomic advances are continually applied to improve the diagnostic rate, which has increased from <20% in 2012 to >60% in patients with suspected mitochondrial disease. CHOP’s research scientists and physicians actively work to better understand the mechanistic subtleties of different types of mitochondrial disease and develop precision therapies tailored to each subtype and clinical disorder.

New insights are also being rapidly translated into many new clinical diagnostic tests, including a suite of new molecular, biochemical, anatomic pathology, exercise, biopsy, and radiology tests either now available or to be launched over the next several months. Collectively, these cutting-edge tests, many not available anywhere else, will enable improved diagnosis, understanding, and management of mitochondrial disease.

The MMFP also actively seeks to improve clinician education and public awareness of mitochondrial disease, align clinical and research priorities, and reach common goals with advocacy organizations, regulatory agencies, and families. Through all of these efforts, Mitochondrial Medicine at CHOP is leading the way to efficiently harness dramatic scientific advances and improve the lives of patients living with mitochondrial disease around the world.

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