Targeted RNA sequencing for diagnosing ALS

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.