Gene hunt for rare muscle diseases seeks 4,000 volunteers

NCT ID NCT00272883

First seen Mar 27, 2026 · Last updated May 13, 2026 · Updated 7 times

Summary

This research study is looking for people with congenital myopathies (muscle diseases present from birth) and their family members. The goal is to find the genes responsible for these conditions, which could lead to better diagnosis and treatments in the future. Participants provide samples for genetic analysis, and no direct treatment is offered.

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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

Study contacts

  • Contact

    Email: •••••@•••••

  • Contact

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

Locations

  • Genetics Division, Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

    Contact

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

Conditions

Explore the condition pages connected to this study.