Long Read Analysis in Spinal Muscular Atrophy - LOREASI
Recruiting
N/A
Interventional Study
Spinal Muscular Atrophy (SMA)
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
At a Glance
- Age
- 18 and older
- Sex
- Any
- Study type
- Interventional
- Purpose
- Prevention
- Participants needed
- 27 (estimated)
- Sponsor
- University Hospital, Rouen · Other
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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 copi…
Trial Locations
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Eligibility Criteria
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…
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