Natural history study of congenital myasthenic syndromes (CMS)
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study follows people with congenital myasthenic syndrome (CMS) caused by changes in certain genes (DOK7, MUSK, AGRN, or LRP4) over time. It does not test any new drug, but helps researchers understand how the condition changes and how to plan future treatments.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You or your child must be 2 years or older.
- You must have a confirmed congenital myasthenic syndrome (CMS) caused by changes in the DOK7, MUSK, AGRN, or LRP4 genes.
- If you are 6 years or older, you must have a muscle weakness score of 3 or more on a standard test.
- If you are taking a beta-agonist medicine (like albuterol), you have been on it for at least 3 months.
- You cannot be in another interventional clinical study right now.
- You cannot have any other medical condition that would make it hard to assess CMS.
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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