U.S., Jan. 13 -- ClinicalTrials.gov registry received information related to the study (NCT07332702) titled 'Long Read Analysis in Spinal Muscular Atrophy - LOREASI' on Dec. 29, 2025.
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, ...