Long-read sequencing for neurogenetic diagnoses
Treatments studied
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study uses advanced long-read DNA sequencing to find hidden genetic causes of neurological diseases. It may help people who have a known repeat expansion or those with an unexplained neurological condition and willing family members.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are between 6 and 60 years old.
- You speak French.
- You are covered by French health insurance.
- You have a known genetic repeat expansion that causes a neurological condition, OR you have a neurological disease that hasn't been explained by standard genetic tests, and you are willing to provide a blood sample and possibly a skin biopsy.
- If your condition is unexplained, at least two family members (one affected, one unaffected) must agree to join the study too.
- If you are a healthy volunteer, you must be having an appointment at CHU Bordeaux for a non-neurological reason, pass a neurological exam with no problems, and provide samples.
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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