Spinal Muscular Atrophy
Conditions
Brief 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.
Interventions
OTHERSMA 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.
Sponsors
Hospices Civils de Lyon
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to 85 Years
Healthy volunteers
No
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)-
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Quality of life | At inclusion | Quality of life of adult patients with spinal muscular atrophy in France, assessed using the QOLNMD score |
Countries
France
Outcome results
None listed