Scientists track rare muscle disease to unlock its secrets

NCT ID NCT01417533

First seen Nov 01, 2025 · Last updated May 14, 2026 · Updated 30 times

Summary

This study followed 78 adults with GNE myopathy, a rare genetic disease that causes progressive muscle weakness, typically starting in young adulthood. Researchers collected medical history, blood samples, muscle strength tests, and imaging over 18 to 24 months to learn how the disease changes over time. No treatments were given; the goal was to better understand the disease and identify useful markers for future research.

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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.

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Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

Conditions

Explore the condition pages connected to this study.