NCT06083584
Development of Targeted RNA-Seq for Amyotrophic Lateral Sclerosis Diagnosis
Recruiting · Not specified · Centre Hospitalier Universitaire de Nīmes · registry updated 2025-05-20
Inclusion and exclusion lines below are quoted from ClinicalTrials.gov. No match score is shown, because a score needs a person's age, biomarkers, and treatment dates. Confirm the record with the study team.
Genetic diagnosis of Amyotrophic Lateral Sclerosis (ALS) could identify the origin of the disease, potentially allowing the patient to pursue targeted/gene therapy. However, many familial forms of ALS are genetically undiagnosed, either because no variant has been detected in the genes of interest, or because the detected variant(s) have uncertain significance. Currently, molecular diagnosis takes place in two stages: 1) Search for the GGGGCC expansion in the C9ORF72 gene by RP-PCR; 2) Analysis of the coding regions by high-throughput sequencing of a panel of 30 genes involved in ALS. Many of these variants of uncertain significance affect splicing. Their impact can be predicted using in silico tools, but only an analysis of the patient's RNA can confirm their pathogenic nature. Currently, the analysis of transcripts is only done a posteriori, when a variant predicted to impact splicing is detected on the patient's DNA. RT-PCR followed by Sanger sequencing then verifies the impact of the splice variants. This method confirmed the impact of certain splice variants in patients....
Inclusion
- 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
- The patient is under safeguard of justice or state guardianship