Quality of Life and Participation of the Adult With Spinal Muscular Atrophy in France
- Conditions
- Spinal Muscular Atrophy
- Interventions
- Other: SMA adult patients
- Registration Number
- NCT05366465
- Lead Sponsor
- Hospices Civils de Lyon
- 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 175
- 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)
- patients who do not complete ≥ 80% of the questionnaire)-
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description SMA adult patients SMA adult patients -
- Primary Outcome Measures
Name Time Method Quality of life At inclusion Quality of life of adult patients with spinal muscular atrophy in France, assessed using the QOLNMD score
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (2)
Service L'Escale - Médecine Physique et de Réadaptation Pédiatrique Groupement Hospitalier Est des Hospices Civils de Lyon
🇫🇷Bron, France
VUILLEROT Carole
🇫🇷Bron, France