Major study tracks rare muscle disease to pave way for future treatments
NCT ID NCT05250375
First seen Jun 26, 2026 · Last updated Jun 26, 2026
Summary
This observational study aims to better understand primary mitochondrial myopathy, a rare muscle disease. Researchers will follow 1300 patients and healthy controls, measuring muscle strength, balance, and daily function over time. The goal is to develop and validate tools to track disease progression, which could help design future clinical trials for potential treatments.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this study could provide validated tools to measure disease progression, enabling future clinical trials for mitochondrial myopathy treatments.
What could go wrong
This is an observational study, not a treatment trial. It aims to gather data, not test a therapy, so there is no direct benefit to participants. Results may take years to impact care.
Disclaimer
Read more
Show less
This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for PRIMARY MITOCHONDRIAL DISEASE are added.
By submitting, you agree to our Terms of use
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Show contact details
Enter your email to view the contact information for this study.
By submitting, you agree to our Terms of use
Study contacts
-
Contact
Phone: •••-•••-•••• Email: •••••@•••••
-
Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
-
Children's Hospital of Philadelphia
RECRUITINGPhiladelphia, Pennsylvania, 19104, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••