Long Read Analysis in Spinal Muscular Atrophy - LOREASI

NCT07332702 | Recruiting

• 1 other identifier: 2023/0154/HP
• Study Type: interventional
• Target: 27
• Locations: 1 country
• Sites: 1

Brief Summary

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

Spinal Muscular Atrophy (SMA)

Keywords

SMA, SMN1, long read, cis duplication, genetic counselling

Outcome Measures

Primary Outcomes (1)

• Ability to identify a [2+0] SMN1 genotype

  From enrollment until the end of the analyses (36 months)

Secondary Outcomes (1)

• Ability to perform assembly of ultra-long molecules of DNA

  From enrollment until the end of the analyses (36 months)

Study Arms (2)

Control group

EXPERIMENTAL

subjects carrying 1 or 3 copies of the SMN1 gene and a variable number of copies of the SMN2 gene

Genetic: blood sample

Test group

EXPERIMENTAL

subjects carrying a 2+0 genotype (two copies of the SMN1 gene in cis on one allele and a deletion on the other allele)

Genetic: blood sample

Interventions

blood sample GENETIC

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

Control group; Test group

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Adult Subject:
• Subject with either:
• or 3 copies of the SMN1 gene (control group) and a variable number of copies of the SMN2 gene
• copies of the SMN1 gene in cis (2+0 genotype) (test group)
• Affiliation to French health insurance
• Signed consent form

You may not qualify if:

• Pregnant or breastfeeding women
• Individuals deprived of liberty by an administrative or judicial decision, or those under guardianship or curatorship

Sponsors & Collaborators

• University Hospital, Rouen: lead
• Agence de La Biomédecine: collaborator

Study Sites (1)

CHU Rouen

Rouen, France

RECRUITING

MeSH Terms

Conditions

Muscular Atrophy, Spinal; Spinal Muscular Atrophy, Type IV

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Pascale Saugier-Veber, PharmD PhD

CONTACT

(+33) 2 32 88 64 51; Pascale.Saugier-Veber@chu-rouen.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: PREVENTION
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 29, 2025
• First Posted: January 12, 2026
• Study Start: May 15, 2025
• Primary Completion (Estimated): January 15, 2027
• Study Completion (Estimated): January 15, 2027
• Last Updated: January 12, 2026

Record last verified: 2025-12

Locations

FR (1)