Long Read Analysis in Spinal Muscular Atrophy - LOREASI

Plain-language summary

This study uses long-read analysis of a blood sample to examine the SMN1 and SMN2 genes linked to spinal muscular atrophy. It enrolls adults with different copy numbers of the SMN1 gene, forming a control group and a test group. It is a study with no assigned phase and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Not Applicable

Status

Recruiting

Sponsor

University Hospital, Rouen

Intervention

blood sample

Start date

5/15/2025

Estimated completion

1/15/2027

Countries

France

Related genes

Locations

• Rouen, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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