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

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.

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Key information

Conditions

Spinal Muscular Atrophy Central Nervous System Diseases Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases

Age range

18 year–85 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Service L'Escale - Médecine Physique et de Réadaptation Pédiatrique Groupement Hospitalier Est des Hospices Civils de Lyon, Bron, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Patient with SMA type 1, 2, 3 or 4
≥ 18 years old
giving informed consent to participate to the study
patients from the study of Dany et al "Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease" (2015)

Exclusion criteria

patients who do not complete ≥ 80% of the questionnaire)-

Treatment and study plan

SMA adult patients

Other

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.

Primary outcomes

Quality of life

Time frame: At inclusion

Quality of life of adult patients with spinal muscular atrophy in France, assessed using the QOLNMD score

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Official study title

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

Acronym: QOLSMA

Important dates

Study start: 2022
Primary completion: 2024
Study completion: 2024
First posted: May 9, 2022
Registry last updated: Mar 7, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed