New study tracks rare muscle disease to pave way for future treatments

NCT ID NCT06287762

First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study follows 150 people aged 7 and older with RYR1-related muscle disorders for 3 to 5 years. Researchers will collect medical history, perform physical exams, and use questionnaires, activity trackers, and tests of heart, lung, and muscle function. The goal is to better understand how these disorders progress, which could help design future treatments and clinical trials.

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 crucial data to design future treatments and clinical trials for RYR1-related muscle disorders.

What could go wrong

This is an observational study, not a treatment trial. It will not directly improve participants' health, and results may take years to impact care.

Disclaimer Read more

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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Conditions

The condition(s) this trial relates to.

muscle tissue disorder RYR1-related myopathy Thomsen and Becker disease

As listed by the trial registrant

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

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: •••••@•••••

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