Actively Recruiting
Long Read Analysis in Spinal Muscular Atrophy - LOREASI
Led by University Hospital, Rouen · Updated on 2026-01-12
27
Participants Needed
1
Research Sites
87 weeks
Total Duration
On this page
Sponsors
U
University Hospital, Rouen
Lead Sponsor
A
Agence de La Biomédecine
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Long Read Analysis in Spinal Muscular Atrophy - LOREASI
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Adult aged 18 years or older
- Has either 1 or 3 copies of the SMN1 gene (control group) or 2 copies of the SMN1 gene in cis (2+0 genotype) (test group)
- Affiliated to French health insurance
- Signed informed consent form
You will not qualify if you...
- Pregnant or breastfeeding women
- Individuals deprived of liberty by administrative or judicial decision
- Individuals under guardianship or curatorship
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
CHU Rouen
Rouen, France
Actively Recruiting
Research Team
P
Pascale Saugier-Veber, PharmD PhD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
PARALLEL
Primary Purpose
PREVENTION
Number of Arms
2
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here