How common are RYR1-related diseases?
Part of Bones, joints & muscles, Brain & nervous system, Genetic & congenital clinical trials.
This study looks at how common RYR1-related diseases are by gathering information from people who have a confirmed RYR1 gene change and related symptoms. By joining, you help researchers better understand these rare conditions, which may improve future care.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a confirmed disease-causing change (mutation) in the RYR1 gene.
- You have symptoms of a condition linked to RYR1, such as a congenital myopathy (a muscle weakness disorder present from birth) or malignant hyperthermia (a severe reaction to certain anaesthetics).
- You have been evaluated at least once by a specialist at a national expertise centre.
- You live in a country that is taking part in this study.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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