Study genetics to find who modifies Charcot-Marie-Tooth (CMT)
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study looks at DNA changes in families with Charcot-Marie-Tooth (CMT), especially a known gene duplication called PMP22. It aims to understand what other genetic factors may change how CMT shows up, which could help future diagnosis and care.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You (or a parent/guardian) agree to join and sign a consent form
- If you are 13–17, you also must agree by signing an assent form
- You must have CMT with evidence of a PMP22 duplication (you or a close family member), or another qualifying genetic-neuropathy pathway described by the study
- If you are in the exome-control group, you must be a family member of a CMT participant and either have no neuropathy or have not been examined yet
- You should not have CMT-like nerve problems caused by clearly non-genetic reasons such as certain chemotherapy, diabetes, or alcohol-related injury
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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