A Natural History Study of RYR1-Related Disorders
Recruiting
Observational Study
Ryanodine Receptor 1-Related Myopathy
Ryanodine Receptor 1 Related Disorders
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 7 – 100
- Sex
- Any
- Study type
- Observational
- Participants needed
- 150 (estimated)
- Sponsor
- National Institutes of Health Clinical Center (CC) · NIH
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About This Trial
Background:
Congenital myopathies (CM) are genetic disorders that can cause decreased muscle tone and muscle weakness. Most CMs in the United States are related to the ryanodine receptor 1 (RYR1) gene. Researchers need more natural history data to learn about these CMs in children and adults.
Objective:
To learn more about the signs, symptoms, and course of RYR1-related disorders.
Eligibility:…
Trial Locations
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Eligibility Criteria
* INCLUSION CRITERIA (CENTRALIZED ARM)
1. Stated willingness to comply with all study procedures, availability for the duration of the study, and submission of medical records to research team prior to screening.
2. Male or female, aged \>=7 years of age.
3. Genetically confirmed RYR1-related…
Contacts