Using genetic testing to find answers for rare muscle diseases
Part of Bones, joints & muscles, Brain & nervous system, Genetic & congenital, Hormones & metabolism clinical trials.
This study looks at leftover muscle tissue from people who have had genetic testing for rare muscle diseases but didn't get a clear diagnosis. The goal is to use newer genetic analysis to find the cause of their disease.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a rare genetic muscle disease.
- You already had broad genetic testing (a panel of 200 genes) since 2017, but it did not find the cause.
- You had a muscle biopsy sample stored at the hospital in Marseille (AP-HM).
- You do not have a known molecular diagnosis (a specific gene change causing your disease).
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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