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Major study tracks rare muscle disease to pave way for future treatments

NCT ID NCT05250375

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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

About 1,300 people

The number the study aims to enrol. It can still change while the study runs.

Started

Mar 2017

Expected to finish

Mar 2030

An estimate. End dates often move.

Lead sponsor

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

0 to 100 years

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show 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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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.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    1 site. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. 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

Study contacts

  • Contact

    Email: •••••@•••••

  • Contact

    Email: •••••@•••••

Locations

  • Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

    Contact Email: •••••@•••••

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