Using Long-Read Genetic Testing to Detect Hidden SMN1 Gene Duplications Improving Genetic Counseling for Adults at Risk of Spinal Muscular Atrophy

What this Trial Is About

Spinal Muscular Atrophy SMA is a severe neuromuscular disease caused by deletion of the SMN1 gene, with the most serious form leading to death in children if untreated. Genetic counseling is crucial for identifying couples where both partners carry the gene, but current diagnostic methods cannot detect carriers with a special 20 SMN1 gene configuration. This study aims to use new technologies analyzing ultra-long DNA molecules to better detect these 20 genotypes and improve genetic counseling for SMA. Participants in the study will provide a blood sample, which will be analyzed using optical mapping technology to detect cis duplications of the SMN1 gene. The study includes groups with different SMN1 gene copy numbers those with 1 or 3 copies and those with a 20 genotype. The study will assess the ability to identify the 20 genotype and perform detailed DNA molecule assembly over a 36-month period. During the study, participants will give a blood sample that is sent to a genetics laboratory for analysis. The research team will monitor the detection of the 20 genotype and the assembly of ultra-long DNA molecules. The total study duration for analyses is 36 months. Participants must be adults affiliated with French health insurance and provide consent. Pregnant or breastfeeding women and individuals under legal guardianship are excluded.

Long Read Analysis in Spinal Muscular Atrophy - LOREASI