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The Benefits of Long-read High-throughput Genomic Sequencing for the Causal Diagnosis of Cerebellar Ataxias

RecruitingNAAges any - anyAllCentre Hospitalier Universitaire Dijon
NCT06467175 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

Cerebellar ataxias are a group of rare neurological disorders that are clinically and genetically heterogeneous, with several hundred genes and diseases known to date. Over the last decade, their diagnosis has been revolutionised by the development of high-throughput sequencing technologies such as exome/genome sequencing (ES/GS), making it possible to obtain a molecular diagnosis in a growing number of patients. However, almost 40% of patients remain without a molecular diagnosis, raising questions about the limitations of sequencing technologies based on a technique known as short-read. One limitation of short-read is its poor ability to detect repeated motif expansions, a frequent mechanism in neurology and associated with more than thirty neurogenetic diseases. Although tools for analysing ES/GS data have gradually been developed in response to this problem, their effectiveness and r

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📋 Eligibility rules (as published)
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
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What it tests

  • blood sampling for high molecular weight DNA extraction
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Where

1 site
Chu Dijon Bourgogne
Dijon, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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