Major study tracks rare muscle disease to pave way for future treatments
NCT ID NCT05250375
First seen Jun 26, 2026 · Last updated Sep 18, 2026 · Updated 2 times
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.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 1,300 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Mar 2017
- Expected to finish
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Mar 2030
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Individuals with primary mitochondrial myopathy and healthy volunteers
- Ages
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0 to 100 years
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
MM Cohort Inclusion Criteria 1. Males or females age 0-100 years of age 2. Mitochondrial disorder established by confirmed genetic or biochemical mutation in mtDNA or nuclear DNA OR is suitable for participation in the opinion of the investigator based on clinical presentation. 3. Exhibits myopathy (exercise intolerance, muscle strength, fatigue) relating to Mitochondrial disease in the opinion of the investigator 4. Able to provide written consent OR parental permission and child assent OR if they are an adult with diminished capacity, an LAR or healthcare representative is able to and willing to provide consent ., as approved by the appropriate Institutional Review Board (IRB) or Ethics Committee (EC) MM Cohort Exclusion Criteria 1. Male or female fetuses 2. Non English speakers 3. Parents/guardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures. 4. Subjects that do not meet all of the enrollment criteria may not be enrolled. Any violations of these criteria must be reported in accordance with IRB Policies and Procedures. Healthy Control Cohort Inclusion Criteria 1. Males or females age 0-100 years of age 2. No history of mitochondrial myopathy symptoms 3. Able to provide written consent or parental permission and child assent., approved by the appropriate Institutional Review Board (IRB) or Ethics Committee (EC) 4. Individual is not a study staff member or a family member of a study staff member (not listed as a study staff in eIRB) Healthy Control Exclusion Criteria 1. Male or female fetuses 2. Non English speakers 3. Mitochondrial disorder established by confirmed genetic or biochemical mutation in mtDNA or nuclear DNA 4. Exhibits myopathy (exercise intolerance, muscle strength, fatigue) relating to Mitochondrial disease 5. Parents/guardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures. 6. Individual is listed as a study staff member in eIRB, OR individual is a family member of a study staff member listed in eIRB 7. Subjects that do not meet all of the enrollment criteria may not be enrolled. Any violations of these criteria must be reported in accordance with IRB Policies and Procedures.
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Genom att skicka in godkänner du våra Användarvillkor
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.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The study's own enquiry address
This study publishes an address for enquiries. See it below .
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Show contact details
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Genom att skicka in godkänner du våra Användarvillkor
Study contacts
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Contact
Email: •••••@•••••
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Contact
Email: •••••@•••••
Locations
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Children's Hospital of Philadelphia
RECRUITINGPhiladelphia, Pennsylvania, 19104, United States
Contact Email: •••••@•••••
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