Long Read Analysis in Spinal Muscular Atrophy - LOREASI
Trial Parameters
Brief Summary
Spinal Muscular Atrophy (SMA) is a severe neuromuscular disease caused by deletion of the SMN1 gene, with the most severe form leading to death in children without treatment. Genetic counselling to detect couples where both partners are carriers is particularly important. In some countries, preconception screening is offered. However, some carriers escape detection due to the existence of two copies of the SMN1 gene side-by-side (2+0 genotype). Currently, no molecular genetic methods used for diagnostic purposes can detect these 2+0 genotypes, which pose a significant challenge in genetic counselling. This study aims to use new technologies based on the analysis of ultra-long molecules to detect side-by-side duplications of the SMN1 gene to detect heterozygous subjects not identified by current techniques and improve genetic counselling.
Eligibility Criteria
Inclusion Criteria • Adult Subject: * Subject with either: * 1 or 3 copies of the SMN1 gene (control group) and a variable number of copies of the SMN2 gene * 2 copies of the SMN1 gene in cis (2+0 genotype) (test group) * Affiliation to French health insurance * Signed consent form Exclusion Criteria * Pregnant or breastfeeding women * Individuals deprived of liberty by an administrative or judicial decision, or those under guardianship or curatorship