Using advanced genomic sequencing to diagnose cerebellar ataxias

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

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

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 210 (estimated)
• Sex: All
• Sponsor: Centre Hospitalier Universitaire Dijon (Academic / other)
• Locations: 1 site (Dijon)
• Trial ID: NCT06467175 on ClinicalTrials.gov

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.

Who should consider this trial

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.

Not a fit: Patients who have already received a molecular diagnosis or those with conditions that contraindicate participation in the study may not benefit.

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 performed: Other studies have shown promise in using advanced genomic sequencing techniques for diagnosing genetic disorders, suggesting potential success for this approach.

Eligibility 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 this trial is running

Dijon

• Chu Dijon Bourgogne — Dijon, France (Recruiting)

Study contacts

• Study coordinator: Quentin THOMAS

Conditions Cerebellar Ataxias