NCT07332702Recruiting
Long Read Analysis in Spinal Muscular Atrophy - LOREASI
Detection of Cis Duplications of the SMN1 Gene Using Long-read Analysis to Address a Major Issue in Genetic Counseling for Spinal Muscular Atrophy
Source: ClinicalTrials.gov · Last updated 12 Jan 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Interventional
- Enrollment
- 27 (estimated)
- First submitted
- 29 Dec 2025
- Start date
- 15 May 2025
- Primary completion date
- 15 Jan 2027
- Lead sponsor
- University Hospital, Rouen
- Diseases
- Spinal muscular atrophy
- NCT number
- NCT07332702
What you commit to
- Study type: Interventional
- Planned participants: 27
- From 15 May 2025 to the primary completion date, 15 Jan 2027
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- Pregnant or breastfeeding women
- Individuals deprived of liberty by an administrative or judicial decision, or those under guardianship or curatorship
Who the study is looking for
- 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
Age in the registry: 18 years to - · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| CHU Rouen Coordinator of this site? Confirm its status | Rouen | France | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.