Study of hidden DNA causes for rare neuromuscular and epilepsy diseases
Part of Brain & nervous system, Eyes & vision, Genetic & congenital clinical trials.
This study is for people with a neuromuscular disease or epilepsy whose genetic testing hasn't found a clear answer. It uses advanced techniques to look at parts of the DNA that don't code for proteins, to find hidden causes and help guide future treatments.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You or a family member has a clinical diagnosis of a neuromuscular disease (NMD) or an epilepsy disorder (ED).
- Previous genetic tests (exome sequencing or chromosomal microarray) did not find a clear cause, or found only one piece of a problem in a recessive gene.
- OR a genetic test found a variant of uncertain significance (VUS) that might affect how genes are turned on or off.
- All immediate family members involved (parents and affected relatives) must agree to take part in the 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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