Scientists track rare muscle disease in children and adults

NCT ID NCT06630650

Summary

This study aims to better understand how congenital myasthenic syndromes (CMS)—rare inherited disorders that cause muscle weakness—progress over several years. Researchers will follow about 75 participants, aged 6 months and older, for up to 5 years, performing regular physical exams, movement tests, and scans. The main goal is to gather detailed information about the disease and test tools to measure it accurately, which is a crucial step to prepare for future treatment trials.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.