Children’s Hospital of Philadelphia (CHOP) is a proud sponsor of the United Mitochondrial Disease Foundation (UMDF) 2025 Mitochondrial Medicine Symposium, held June 18 to June 21, 2025, in St. Louis, MO.
The symposium is broken into two segments:
Conference overview and speakers
Mitochondrial Medicine 2025 will draw clinicians, researchers, patients and families together to learn about the latest developments in the field of mitochondrial medicine, to explore industry advancements and potential treatments, and to contribute to cutting-edge research. We’re excited to join others in learning from one another and exploring new ways to diagnose, treat and support patients with mitochondrial disease.
The conference includes a mix of education-based sessions, panel discussions and social events. The Mitochondrial Medicine Program at CHOP is a sponsor for this year’s event, and many CHOP faculty and staff will be presenting at and attending the event. The conference offers a unique opportunity to learn about – and potentially enroll in or contribute to – ongoing research and new clinical trials for mitochondrial disease.
A wide range of CHOP faculty and staff are scheduled to present in invited talks at the Mitochondrial Medicine Symposium, including (in alphabetical order):
- Zarazuela Zolkipli Cunningham, MBChB, MRCP, CHOP Mitochondrial Medicine, Division of Human Genetics
- Jean Flickinger, PT, MPT, PCS, CHOP Mitochondrial Medicine, Division of Human Genetics
- Shana McCormack, MD, MTR, CHOP Neuroendocrine Center, Division of Endocrinology and Diabetes
- Elizabeth McCormick, MS, LCGC, CHOP Mitochondrial Medicine, Division of Human Genetics
- Amy Goldstein, MD, CHOP Mitochondrial Medicine, Division of Human Genetics
- Shahreen Amin, PhD, CHOP Division of Neurology
- Douglas Wallace, PhD, CHOP Center of Mitochondrial and Epigenomic Medicine, Division of Human Genetics
For Patients and Families
The Mitochondrial Medicine Program at CHOP is a premier center in the world for providing multidisciplinary clinical care, advanced diagnostics, and therapies, and individualized basic, translational, and clinical research programs. Our program is dedicated to improving the health of patients – of all ages – living with mitochondrial disease. Designated as a Frontier Program at CHOP, Mitochondrial Medicine is dedicated to forging new discoveries, delivering novel therapies, and helping more children and adults living with mitochondrial disease to thrive.
Family support at CHOP
CHOP’s Mitochondrial Disease Program evaluates children and adults for a wide range of mitochondrial diseases.
- Our dedicated, multidisciplinary team includes the nation’s top physicians, genetic counselors, nurses, subspecialists and others – all focused on determining the best course of treatment for each individual patient.
- We also offer national provider outreach support services to support clinicians and researchers.
- We provide individualized support for family based on your needs – whether you need transportation support to travel to Philadelphia for care, wish to be connected with CHOP’s Department of Global Medicine team for assistance with visas and travel documents, or want to support other families seeking care at CHOP for mitochondrial diseases.
Mitochondrial Disease: Nora’s Story
After severe mitochondrial disease claimed their son, a New York family relied on medical advances — and CHOP — to have a healthy daughter.
Diagnostic testing at CHOP
Integrated diagnostic tests – many developed at CHOP – can provide families with a definitive diagnosis.
- We offer a wide range of advanced diagnostic testing for mitochondrial disease to not only provide a definitive diagnosis, but also to help guide treatments. New discoveries are happening every day.
- Our tests include novel blood biomarkers of mitochondrial disease to improve our ability to accurately diagnose mitochondrial diseases and monitor mitochondrial medicine therapies in the least invasive ways possible.
- We have launched an integrated respiratory function test in skin cells to measure how well mitochondria are breathing and help identify which type of mitochondrial disease a person may have.
- We are working to launch a first-of-its-kind leg magnetic resonance imaging (MRI) test to non-invasively quantify mitochondrial function in leg muscles during exercise.
- We offer advanced genomic testing of the nuclear and mitochondrial DNA to inform each person’s individual cause of their mitochondrial diseases.
- We encourage you to share your family’s mito journey, by joining mitoSHARE, a worldwide patient-populated initiative stewarded by UMDF. By gathering non-identified data from patients and families affected by mitochondrial disease, we gain a better understanding of the disease, leading to improved diagnoses, treatment and cures. Learn more about who should register, the benefits of participating and how to get started.
Working closely in collaboration with UMDF, we are supporting family-controlled genomic data sharing for community-based research analyses.
Clinical research at CHOP
CHOP is a powerful hub for research on mitochondria; with a wide range of collaborating specialties converging on a deeper understanding of mitochondrial diseases and conditions, and new approaches to treating these conditions. Currently, we are investigating mitochondrial and epigenomic dysfunction related to mutations in more than 300 different genes. Learn about our clinical studies.
Join CHOP Mitochondrial Medicine at the UMDF conference to hear about research studies being offered at CHOP including:
- Natural history studies
- Observational studies
- Novel monitoring and tests
- Clinical trials and Expanded Access Programs
You’ll have an opportunity to learn about ongoing and upcoming studies, the consent process, and participate in some testing at the symposium at the second annual Mitochondrial Medicine Clinical Research Pavilion. CHOP will have study teams and experts available throughout the meeting to answer questions.
Other resources for families at CHOP
CHOP’s Mitochondrial Medicine Program offers select resources for families interested in learning more about mitochondria, genomic resources and professional mitochondrial disease registries and societies such as:
- Mitochondrial Disease Community Registry
- Leigh Syndrome Registry
- Mitochondrial Medicine Society
- mitoSHARE
- MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium
Additional resources listed include patient grants for travel, uncovered medical expenses, and a list of patient support and advocacy groups.
More about the UMDF Family Program
Learn more about UMDF’s Family Program, including session topics, speakers, times and locations.
For Clinical Partners
The Mitochondrial Medicine Program at CHOP is a premier center in the world for multidisciplinary clinical care, advanced diagnostics and therapies, and individualized basic, translational and clinical research programs. Our program is dedicated to improving the health of patients – of all ages – living with mitochondrial disease. We welcome the opportunity to actively collaborate and coordinate with clinicians like you to determine the best course of treatment for every patient with a mitochondrial disease. Together, we will forge new discoveries and help more patients thrive.
Diagnostic testing
CHOP offers cutting-edge mitochondrial testing including anatomic pathology testing, molecular testing, biochemical tests, radiology imaging and more. While our list of currently available tests is extensive, there are also many new testing options under development.
Some current testing includes:
- Ketone body panel (including highly sensitive quantitative measures of alpha-hydroxybutyrate, beta-hydroxybutyrate: acetoacetate ratio, beta-hydroxyisobutyrate and gamma-hydroxybutyrate)
- Reduced and Oxidized Glutahione
- Oxidative Phosphorylation in fibroblast
- Skin biopsy for fibroblast cell line culture
- mtDNA genome sequencing and deletion quantification (in patient and family members, across a range of sample types)
- Integrated exome + mtDNA genome test
- mtDNA content test in muscle
- Brain MRS
See Advanced Testing for Mitochondrial Disease at CHOP.
If you suspect a patient has a mitochondrial disease and would benefit from further testing and a confirmed diagnosis, consider referring the patient to CHOP. Call 267-426-4961 or email mmfp@chop.edu. We welcome the opportunity to collaborate with you in the diagnosis, care and treatment of your patient.
Clinical research
CHOP is a powerful hub for research on mitochondria; with a wide range of collaborating specialties converging on a deeper understanding of mitochondrial diseases and conditions, and new approaches to treating these conditions. Currently, we are investigating mitochondrial and epigenomic dysfunction related to mutations in more than 300 different genes. Learn about our clinical studies.
Join CHOP Mitochondrial Medicine at the UMDF conference to hear about research studies being offered at CHOP including:
- Natural history studies
- Observational studies
- Novel monitoring and tests
- Clinical trials
You’ll have an opportunity to learn about ongoing and upcoming studies, the consent process, and learn about testing in the second annual Clinical Research Pavilion. CHOP will have study teams and experts available to answer your questions.
Stop by CHOP’s booth to learn more, request a consult about a patient, or get more information about mitochondrial diseases.
Clinical Research Pavilion
Dr. Zolkipli-Cunningham led the CHOP Myopathy Team in the first-ever Clinical Research Pavilion at the 2023 UMDF Conference, which was highly successful as ~70 patient and healthy volunteer assessments were conducted.
At this year’s 2024 UMDF Conference, the CHOP Myopathy Team are expanding their efforts to achieve two objectives: 1) To obtain assessments on a new mitochondrial myopathy-specific outcome measure, MM-Function and 2) to validate the Zeno mat of gait analysis and digital wearables. We will be administering our validated Mitochondrial Myopathy Composite Assessment Tool (MM-COAST) alongside our new Mitochondrial Myopathy Functional Scale (MM-Function) physical therapy assessments throughout the conference, seeking to evaluate mitochondrial disease patients and healthy volunteers.
In addition, gait and balance assessments will be performed using the Zeno Mat (Protokinetics) and artificial intelligence foot insoles by Stevens Institute for Technology, as well as inertial sensors (mHealth Technologies).
The CHOP team will also be conducting 2 Department of Defense funded studies, to develop new methods of measuring mitochondrial function involving Breath collection and pupillometry assessments.
The CHOP Myopathy Team are supported by a Travel grant from the UMDF, and include three physical therapists, led by Jean Flickinger, Stephanie O’Leary and Julia Fogliano, three clinical research assistants including Diego Santos, Amanda Wellik and Imon Rahaman, and a clinical research coordinator, Katelynn Stanley. The CHOP DOD Team will include three clinical research coordinators, Daniel McGinn, Aakanshya Aryal and Kate Rownd.
Partner With Us
Are you a biotech/pharma company looking for collaborative translational and/or clinical research opportunities to develop diagnostics and/or therapeutics for Mitochondrial diseases? Stop by our booth to arrange time to meet with our Executive Director, Marni Falk, MD, or contact us via email.
Resource for Clinicians
Check out our Emergency Department and Inpatient Clinical Pathway for Management of Mitochondrial Disease, available through CHOP’s Clinical Pathways Program. This pathway includes symptoms of mitochondrial disease, what to assess for, recommended tests and when to consider a consult to the specialty based on presented symptoms.
Interested in advancing your training in Mitochondrial Medicine? We offer a range of training opportunities, including a one-year, CHOP graduate medical education approved Mitochondrial Medicine Clinical Fellowship – for more details see CHOP’s Mitochondrial Medicine Training Opportunities.
Mitochondrial Medicine Education Day | DATE TBD
Save the Date for the 5th Annual Mitochondrial Medicine Education Day as we explore recent advances in mitochondrial disease diagnostics and monitoring, clinical trials and outcome measures, and complex care management. CHOP is hosting this full-day virtual event for clinicians, researchers and others who care for patients with complex mitochondrial disorders. Archives of our first three annual Mitochondrial Medicine Education Days are available online at Mitochondrial Medicine Resources for Professionals.
If you have questions, please contact our Clinical Engagement team at ClinicalEngagement@chop.edu.
More about the UMDF Clinical Program
Learn more about UMDF’s Clinical and Scientific Program, including session topics, speakers, times and locations.
Undiagnosed Disease Program at CHOP
If your child has symptoms of a disease that doctors haven’t yet identified, the Undiagnosed Diseases Program at CHOP may be able to help solve the medical mystery.