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Long Read Analysis in Spinal Muscular Atrophy - LOREASI

ConditionSpinal Muscular Atrophy (SMA)
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18+
SponsorUniversity Hospital, Rouen

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

Pregnant or breastfeeding women

Individuals deprived of liberty by an administrative or judicial decision, or those under guardianship or curatorship

Trial design

Design model

Parallel

Treatments tested in this trial

  • 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

Treatment groups

27 Participants
are divided into 2 treatment groups
Group A: Control groupExperimental treatment 1 intervention
Group B: Test groupExperimental treatment 1 intervention

Trial outcomes

Primary outcomes

1

Ability to identify a [2+0] SMN1 genotype

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

Secondary outcomes

1

Ability to perform assembly of ultra-long molecules of DNA

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

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

University Hospital, Rouen

Lead sponsor

Agence de La Biomédecine

Collaborator

Source ClinicalTrials.gov
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