The Mitochondrial Medicine Center at CHOP

09/22/2025

Today is the day! Join us at 10 am EST for our free online education day. Click the link below to register if you haven't already.

Free online education day to explore recent advances in mitochondrial disease diagnostic testing and preventing mitochondrial disease.

09/20/2025

Join us today for Light Up Green Day! Light Up Green Day is a global campaign to illuminate landmarks in green to raise awareness of mitochondrial disease. We have several landmarks in the Philadelphia area who pledged to turn GREEN! If you are local, look for the CHOP Roberts building, Boathouse Row, One Liberty Place, Two Liberty Place, FMC Tower, and BNY Melon Building. Share your pictures in the comments with any of these landmarks or other locations local to you that light up green!

09/19/2025

Don't forget to register if you haven't already for our Annual Mitochondrial Education Day on Monday (9/22)! Click the link below to register.

Free online education day to explore recent advances in mitochondrial disease diagnostic testing and preventing mitochondrial disease.

09/12/2025

Join us at 10 am EST for our virtual panel designed to spark direct discussion between families, clinicians, advocates, industry leaders, pharmaceutical partners and anyone interested in therapeutics for mitochondrial disease. Click the link below to register if you haven't already.

The panel is to spark discussion between families, clinicians, advocates, industry leaders, and pharma partners interested in therapeutics.

08/28/2025

Please join us online for the 6th Annual Mitochondrial Medicine Education Day on Monday, September 22 at 10am EST. We will explore recent advances in mitochondrial disease diagnostic testing and preventing mitochondrial disease and you’ll hear from experts in the field. Click the link below to register for this free event.

Free online education day to explore recent advances in mitochondrial disease diagnostic testing and preventing mitochondrial disease.

08/25/2025

Mark your calendar for Friday, September 12, 2025 at 10:00 AM EST! Next Generation Therapeutics is celebrating its 6th year as a virtual panel designed to spark direct discussion between families, clinicians, advocates, industry leaders, pharmaceutical partners and anyone interested in therapeutics for mitochondrial disease. Click the link below to register for this free event.

The panel is to spark discussion between families, clinicians, advocates, industry leaders, and pharma partners interested in therapeutics.

06/12/2025

The Mitochondrial Medicine Center at the Children's Hospital of Philadelphia is recruiting adults with MELAS to study an experimental new drug called “zagociguat”. It is currently not approved by the U.S. Food and Drug Administration or any other regulatory agencies for this disease; it is considered an investigational drug.

The study will last for approximately 8 months and will include at least 5 visits at CHOP and 4 additional visits that could either be scheduled in your home or at our hospital. Participants will be randomized to receive study drug for 12 weeks and placebo for 12 weeks, but you will not know which order. In addition to monitoring of your safety, the clinical trial also involves blood and urine tests, cardiac tests, physical exercise tests, and other study procedures. For more information: https://clinicaltrials.gov/study/NCT06402123

You will also receive travel support and reimbursement for related expenses.

We hope this research will contribute to the current knowledge of MELAS and improve treatment approaches. To learn more or inquire about this clinical trial, please contact our research coordinator, Sara Nguyen (nguyens2@chop.edu).

11/14/2024

Happy Genetic Counselor Awareness Day! We are so lucky to have 5 genetic counselors (Colleen, Elizabeth, Jamie, Emily, and Daniel) and 2 genetic counseling assistants (Elly and Anusha) as part of our team! Thank you for all that you do for our mito community!

11/04/2024

This Mito Monday we are highlighting the integrated diagnostic tests developed at CHOP! These tests can provide definitive diagnosis, leading to better treatments. New discoveries are happening every day to create additional methods to diagnose mitochondrial disease. Click the link below for the available tests we offer!

Integrated diagnostic tests developed at CHOP can provide definitive diagnosis, leading to better treatments for mitochondrial disease.

10/30/2024

Did you know we are now incorporating sessions with our Physical Medicine and Rehabilitation specialist, Dr McCoy? These appointments are offered once per month. Dr. McCoy focuses on addressing equipment recommendations, addressing movement concerns, and answering any mobility questions you may have.

Andrew McCoy, MD, is an attending physician in the Center for Rehabilitation at Children's Hospital of Philadelphia.

10/28/2024

Happy Mito Monday! With flu season approaching, we frequently are asked if mito patients can receive the flu vaccine. The answer is yes! We strongly support giving recommend immunizations, including the annual influenza vaccine, to individuals with mitochondrial disease and their caregivers to prevent the otherwise very severe or even life-threating problems that may result from vaccine-preventable diseases.

Patients with mitochondrial diseases can have issues related to the decreased production and function of the body’s white blood cells and antibodies that need to be generated to fight infection.

10/25/2024

Did you know CHOP is sponsoring the meeting Advancing Precision Medicine event in Philadelphia November 1-2, 2024? Our very own Dr. Marni Falk is chairing a plenary session and presenting on "Scaling Precision Therapeutic Development for Rare Disease.” There are CME's available for clinicians, nurses and pharmacists! Just use the code CHOP when prompted during the registration process. Click the link below to register.

Nov 1-2, 2024 Join us for the Advancing Precision Medicine Conference and Exhibition in Philadelphia. Topics covered include: Precision Onology, Multiomics, Genomics