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.

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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.

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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