NCT05366465

Quality of Life and Participation of the Adult with Spinal Muscular Atrophy in France

Specificities of Quality of Life and Influence of Participation on the Quality of Life of the Adult with Spinal Muscular Atrophy in France: a Cross-sectional Study

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 149 (actual)
• Sponsor: Hospices Civils de Lyon · Academic / Other
• Sex: All
• Age: 18 Years – 85 Years
• Healthy volunteers: Not accepted

Summary

Spinal muscular atrophy is a hereditary motorneuron disease caused by a mutation of the SMN1 gene, which is at the origin of a progressive limb and axial motor deficiency. It concerns 1200 individuals in France, including 700 adults in 2018. The main objective of this study is to assess the quality of life of SMA patients in France. The secondary objectives are, in one hand, to compare the quality of life of SMA patients to a population of neuromuscular diseases patients. And on the other hand to evaluate the determinants of participation and the impact of participation on quality of life in adult SMA patients.

Conditions

• Spinal Muscular Atrophy

Interventions

Type	Name	Description
OTHER	SMA adult patients	An online questionnaire aimed at collecting demographic and social data, and data concerning activity limitations, participation and quality of life of SMA patients from validated scales : QOLNMD, Rosenberg.

Timeline

• Start date: 2022-10-19
• Primary completion: 2024-02-17
• Completion: 2024-02-17
• First posted: 2022-05-09
• Last updated: 2025-03-07

Locations

2 sites across 1 country: France