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This study explores how long-read high-throughput genomic sequencing can help identify the underlying cause in people with inherited or early-onset cerebellar ataxia. Blood samples are taken from the patient and at least one affected first-degree relative to extract high molecular weight DNA. Run by Centre Hospitalier Universitaire Dijon, this study does not use clinical phases and is currently recruiting participants.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria: * Index case with progressive cerebellar ataxia of familial form (\> 1 1st or 2nd degree relative affected) or sporadic form (onset of symptoms before age 50) * Index case having undergone srGS and not having obtained a molecular diagnosis, whose srGS data are available for reanalysis. * Ability to understand and sign consent by the index case and his/her relative(s) (up to a maximum of 2) * Sample may be taken from the index case and at least one affected or healthy\* first-degree relative (parent, sibling) \* Healthy relatives must be older than the patient to avoid conducting a presymptomatic test in subjects who consider themselves to be healthy. Exclusion Criteria: * Index case or relative(s) not affiliated to national health insurance; * Index case and his/her parents presenting a condition that, in the opinion of the investigator, would contraindicate the subject's participation in the study. * Person under legal protection (curatorship, guardianship) * Person subject to a measure of legal protection * Pregnant, parturient or breast-feeding women * An adult who is unable to give consent