Scientists track rare muscle disease to unlock its secrets

NCT ID NCT01417533

First seen Jun 27, 2026 · Last updated Jul 29, 2026 · Updated 6 times

Summary

This study followed 78 people with GNE myopathy, a rare genetic disease that causes progressive muscle weakness starting in young adulthood. Researchers collected medical history, blood samples, and muscle function tests over up to two years to understand how the disease progresses. No treatment was given; the goal was to learn more about the condition and identify useful markers for future studies.

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 help identify key markers of disease progression, paving the way for future treatment trials.
What could go wrong
This is an observational study, not a treatment trial, so it offers no direct benefit to participants. Results may not lead to immediate therapies.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

Distal myopathy, Nonaka type GNE myopathy RYR1-related myopathy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

More trials for these conditions

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