Actively Recruiting
Detection of Cis Duplications of the SMN1 Gene Using Long-read Analysis to Address a Major Issue in Genetic Counseling for Spinal Muscular Atrophy
Led by University Hospital, Rouen · Updated on 2026-01-12
27
Participants Needed
1
Research Sites
N/A
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 serious form leading to death in children if untreated. Genetic counseling is crucial for identifying couples where both partners carry the gene, but current diagnostic methods cannot detect carriers with a special 2+0 SMN1 gene configuration. This study aims to use new technologies analyzing ultra-long DNA molecules to better detect these 2+0 genotypes and improve genetic counseling for SMA. Participants in the study will provide a blood sample, which will be analyzed using optical mapping technology to detect cis duplications of the SMN1 gene. The study includes groups with different SMN1 gene copy numbers: those with 1 or 3 copies and those with a 2+0 genotype. The study will assess the ability to identify the 2+0 genotype and perform detailed DNA molecule assembly over a 36-month period. During the study, participants will give a blood sample that is sent to a genetics laboratory for analysis. The research team will monitor the detection of the 2+0 genotype and the assembly of ultra-long DNA molecules. The total study duration for analyses is 36 months. Participants must be adults affiliated with French health insurance and provide consent. Pregnant or breastfeeding women and individuals under legal guardianship are excluded.
CONDITIONS
Brief Title
Long Read Analysis in Spinal Muscular Atrophy - LOREASI
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Adults with either 1 or 3 copies of the SMN1 gene and variable copies of the SMN2 gene, or with 2 copies of the SMN1 gene in cis (2+0 genotype)
- Affiliated with French health insurance
- Signed consent form
You will not qualify if you...
- Pregnant or breastfeeding women
- Individuals deprived of liberty by an administrative or judicial decision
- Individuals under guardianship or curatorship
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 36 months during analysis period
Participants provide blood samples for genetic analysis to detect cis duplication of the SMN1 gene.
1 visit (in-person) for blood sample collection
Duration - Up to 36 months
Participants' genetic data are analyzed over time to identify the [2+0] SMN1 genotype and perform assembly of ultra-long DNA molecules.
No additional visits required after sample collection
Trial Site Locations
Total: 1 location
1
CHU Rouen
Rouen, France
Actively Recruiting
Research Team
P
Pascale Saugier-Veber, PharmD PhD
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
PARALLEL
Primary Purpose
PREVENTION
Number of Arms
2
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