Using advanced genomic sequencing to diagnose cerebellar ataxias
Official title: The Benefits of Long-read High-throughput Genomic Sequencing for the Causal Diagnosis of Cerebellar Ataxias
Run by Centre Hospitalier Universitaire Dijon · NCT06467175 · Data updated 2026-11-12
This study is testing a new way to use advanced DNA sequencing to help people with cerebellar ataxias find out what's causing their condition when previous tests didn't provide answers.
Quick facts
| Study type | Interventional |
|---|---|
| Sex | All |
| Enrollment | 210 (estimated) |
| Sponsor | Centre Hospitalier Universitaire Dijon Academic / other |
| Locations | 1 site (Dijon) |
| Status | Recruiting |
| Started | December 11, 2024 |
| Main results expected | June 2028 |
| Study ends | June 2028 |
| Registry record updated | January 21, 2026 |
| Trial ID | NCT06467175 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals with progressive cerebellar ataxia, either familial or sporadic, who have not received a molecular diagnosis from previous short-read genomic sequencing.
✕Probably not a fit
Patients who have already received a molecular diagnosis or those with conditions that contraindicate participation in the study may not benefit.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study aims to improve the molecular diagnosis of cerebellar ataxias, a group of rare neurological disorders, by utilizing long-read high-throughput genomic sequencing. The research focuses on patients who have previously undergone short-read genomic sequencing without obtaining a diagnosis. By analyzing blood samples for high molecular weight DNA extraction, the study seeks to identify genetic causes that may have been missed by conventional sequencing methods. The goal is to enhance diagnostic accuracy for patients with familial or sporadic forms of cerebellar ataxia.
Why it matters
Potential benefit: If successful, this approach could provide accurate diagnoses for patients with cerebellar ataxias who currently lack a molecular diagnosis.
How similar studies have gone: Other studies have shown promise in using advanced genomic sequencing techniques for diagnosing genetic disorders, suggesting potential success for this approach.
Who can join: the full rules
Show full inclusion / exclusion criteria
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
Where it's running
-
Chu Dijon Bourgogne
Dijon, France Recruiting
Study contacts
- Study coordinator: Quentin THOMAS
- Email: quentin.thomas@chu-dijon.fr
- Phone: 0380295313
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.