Researchers launch Long-Term observation study for rare muscle disease
NCT ID NCT06287762
First seen Nov 01, 2025 · Last updated May 24, 2026 · Updated 29 times
Summary
This study aims to collect information on the signs, symptoms, and progression of RYR1-related disorders, a group of genetic muscle conditions. About 150 people aged 7 and older with a confirmed RYR1-related disorder will participate. Participants will have yearly visits for 3 to 5 years, including physical exams, blood and urine tests, heart and lung function tests, motor function assessments, and questionnaires. The goal is to better understand the natural course of the disease, which may help design future clinical trials.
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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.
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
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
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Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
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