Long-read genetic testing to find hidden carriers of spinal muscular atrophy
Tests a blood-based method that detects hidden SMN1 gene copies linked to spinal muscular atrophy.
Plain-language title generated from the registry record
Registry title: Long Read Analysis in Spinal Muscular Atrophy - LOREASI
Key facts
- Where
- Rouen, FranceSee the site
Where in France
- CHU RouenRouen, FranceTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- University Hospital, Rouen
- Trial code
- NCT07332702
- Record updated
- 12 January 2026
- Original description
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.Read full original descriptionShow less
Detection of Cis Duplications of the SMN1 Gene Using Long-read Analysis to Address a Major Issue in Genetic Counseling for Spinal Muscular Atrophy
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.
Inclusion: 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: Pregnant or breastfeeding women; Individuals deprived of liberty by an administrative or judicial decision, or those under guardianship or curatorship.