Long-read genetic analysis for Spinal Muscular Atrophy (LOREASI)

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

Spinal Muscular Atrophy (SMA) is caused by loss of the SMN1 gene, and some carriers are not detected because two SMN1 copies can sit side-by-side on one chromosome (a 2+0 genotype). This study uses ultra-long molecule analysis and optical mapping (Bionano) on blood samples to detect cis duplications of SMN1 in the complex 5q11-q13 region. Participants with 1 or 3 SMN1 copies serve as controls while those with 2 copies in cis (2+0) form the test group, allowing comparison of detection performance against current diagnostic approaches. The goal is to determine whether these technologies can reliably reveal 2+0 genotypes to improve genetic counseling and carrier screening.

Why it matters

Who can join: the full rules

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

Where it's running

• CHU Rouen
  Rouen, France Recruiting

Study contacts

• Study coordinator: Pascale Saugier-Veber, PharmD PhD
• Email: Pascale.Saugier-Veber@chu-rouen.fr
• Phone: (+33) 2 32 88 64 51

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Newborn SMA Screening Service Evaluation

  This project tests newborn SMA screening to see if it works well and is acceptable to families in the UK.

  Recruiting at 2 sites University of Oxford · London and 2 other locations · NCT07888868

• Biomarker search in SMA using advanced multi-omics

  Researchers are trying to see if new biomarkers can help diagnose and monitor spinal muscular atrophy in patients and newborns.

  Recruiting at 3 sites Istituto Giannina Gaslini · Genova and 2 other locations · NCT07883655

• Effects of Different Stiffness Settings During Robotic Isokinetic Training in Children With SMA

  This study tests whether a portable knee-training robot with a compliant vs. rigid stiffness setting improves knee strength in children with spinal muscular atrophy, using each child’s other leg as a comparison.

  Recruiting Peking University Third Hospital · Beijing · NCT07822711

• Wearable monitoring of motor development in babies and young children with spinal muscular atrophy detected at birth

  This project will try wearing small motion sensors at home to see if they can track how babies and young children diagnosed with spinal muscular atrophy at birth move and develop, compared with healthy children.

  Recruiting University of Oxford · Oxford · NCT07543003

• HABIT-ILE plus Functional Strength Training for Children with SMA

  This study will try an intensive HABIT-ILE program combined with functional strength training for children aged 5–17 with SMA who are on stable disease-modifying therapy to see if it improves motor skills.

  Recruiting Teachers College, Columbia University · New York, New York · NCT07488338

• Portable markerless video system to measure walking in adults with neuromuscular conditions or healthy volunteers.

  This project will test a portable video device that measures walking patterns to see if it can track gait changes in adults with neuromuscular diseases and in healthy volunteers.

  Recruiting Institut de Myologie, France · Paris · NCT07321977

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.