Targeted RNA sequencing for diagnosing ALS
Development of Targeted RNA-Seq for Amyotrophic Lateral Sclerosis Diagnosis
Centre Hospitalier Universitaire de Nīmes · NCT06083584
This study is testing a new way to use RNA sequencing to help diagnose ALS more accurately by looking for specific genetic changes in people who have been prescribed genetic testing for the disease.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 192 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Centre Hospitalier Universitaire de Nīmes (other) |
| Locations | 7 sites (Bordeaux and 6 other locations) |
| Trial ID | NCT06083584 on ClinicalTrials.gov |
What this trial studies
This observational study aims to enhance the genetic diagnosis of Amyotrophic Lateral Sclerosis (ALS) by utilizing targeted RNA sequencing. The approach focuses on identifying genetic variants that may contribute to ALS, particularly those that affect splicing and are currently classified as having uncertain significance. By analyzing RNA transcripts, the study seeks to confirm the pathogenic nature of these variants, potentially leading to more accurate diagnoses and targeted therapies for patients. Participants will include those with a prescription for genetic diagnosis of ALS and will provide informed consent for the study.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with a prescription for genetic diagnosis of ALS or familial hypercholesterolemia.
Not a fit: Patients under state guardianship or those without health insurance coverage may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more accurate diagnoses of ALS, enabling patients to access targeted gene therapies.
How similar studies have performed: Other studies utilizing RNA sequencing for genetic diagnosis have shown promise, indicating that this approach may yield beneficial results.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Have a prescription for a genetic diagnosis of ALS (or familial hypercholesterolemia for the control cohort) * Have given their informed consent for the genetic study and the biobank * The patient must be a member or beneficiary of a health insurance plan Exclusion Criteria: * The patient is under safeguard of justice or state guardianship
Where this trial is running
Bordeaux and 6 other locations
- CHU de Bordeaux — Bordeaux, France (RECRUITING)
- CHU de Clermont-Ferrand — Clermont-Ferrand, France (RECRUITING)
- CHU de Lyon — Lyon, France (RECRUITING)
- La Timone — Marseille, France (RECRUITING)
- CHU de Montpellier — Montpellier, France (RECRUITING)
- CHU de Nîmes — Nîmes, France (RECRUITING)
- CHU de Toulouse — Toulouse, France (RECRUITING)
Study contacts
- Principal investigator: Claire Guissart — CHU de Nimes
- Study coordinator: Claire Guissart
- Email: claire.guissart@chu-nimes.fr
- Phone: 04 66 68 32 07
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Amyotrophic Lateral Sclerosis