The Mitochondrial Medicine Center at CHOP

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

10/24/2024

Prior to you or your child’s appointment, a member from our team will contact you for any additional information needed and an updated medication list to ensure a complete understanding of the patient's condition and background to best prepare for your visit. This detailed preparation will help make your visit as productive as possible.

Learn about what to expect at your first appointment with Mitochondrial Medicine at Children’s Hospital of Philadelphia.

10/23/2024

Our incredible team of clinicians offer multidisciplinary clinical care, advanced diagnostics and therapies to patient families while leading cutting-edge research to forge new discoveries, deliver novel therapies and improve the health of all patients living with mitochondrial disease. Call 267-426-4961 to schedule your appointment with our team: Drs. Matthew Demczko, Marni Falk, Rebecca Ganetzky, Amy Goldstein, Sonal Sharma, Zarazuela Zolkipli-Cunningham, and our nurse practitioner Cassandra Tormey.

The Mitochondrial Medicine Program focuses on identifying the underlying cause of difficult-to-treat, genetic-based energy disorders.

10/21/2024

Happy Mito Monday! Did you know our team provides tools and teaching materials for professionals treating mitochondrial disease? Click the link below to view our website for these resources.

Children's Hospital of Philadelphia provides tools and teaching materials for professionals treating Mitochondrial Disease.

10/18/2024

Did you know that CHOP has an interactive symptom checker? Use this tool to help determine how serious your symptoms are, if a healthcare visit is needed, and what steps you can take to relieve your symptoms at home. When in doubt, always contact your primary care provider. Click the link below to get started.

CHOP's online symptom checker can help you make informed decisions about what level of medical care your child may need, if any, and steps you can take to relieve symptoms at home. If your child has medical risk factors such as a weakened immune system or surgery in last 7 days, please contact their...

10/16/2024

Did you miss our annual education symposium? Don’t worry the sessions were recorded and are now live on our website. You can also see past recorded sessions by clicking the link below.

Children's Hospital of Philadelphia provides tools and teaching materials for professionals treating Mitochondrial Disease.

10/14/2024

Happy Mito Monday! Did you know that our team developed a clinical pathway to help guide outside hospitals on care of mito patients? Click and share the link below to spread news about this new interactive tool available!

This pathway guides the ED and inpatient care for patients of any age with Genetically confirmed, Primary (Definite) Mitochondrial Disease or Suspected Mitochondrial Disease.