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RECRUITINGINTERVENTIONAL

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

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

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.

Who May Be Eligible (Plain English)

Inclusion Criteria • 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 Criteria - Pregnant or breastfeeding women - Individuals deprived of liberty by an administrative or judicial decision, or those under guardianship or curatorship Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
Inclusion Criteria • 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 Criteria * Pregnant or breastfeeding women * Individuals deprived of liberty by an administrative or judicial decision, or those under guardianship or curatorship

Treatments Being Tested

GENETIC

blood sample

For subjects who agree to participate in the study, a blood sample will be taken (2x5 mL on EDTA) and sent the same day at 4°C to the genetics laboratory at Rouen University Hospital using a carrier that guarantees delivery on D+1

Locations (1)

CHU Rouen
Rouen, France