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

NCT05366465 | Completed

• 1 other identifier: 69HCL22_0200
• Study Type: observational
• Target: 149
• Locations: 1 country
• Sites: 2

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.

Conditions

Spinal Muscular Atrophy

Outcome Measures

Primary Outcomes (1)

• Quality of life

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

  At inclusion

Study Arms (1)

SMA adult patients

Other: SMA adult patients

Interventions

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.

SMA adult patients

Eligibility Criteria

• Age: 18 Years - 85 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Adult patients with spinal muscular atrophy in France. And adult NMD patients from the study of Dany et al "Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease" (2015)

You may qualify if:

• 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)

You may not qualify if:

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

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (2)

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

Bron, Bron, 69500, France

Location

VUILLEROT Carole

Bron, Bron, 69500, France

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 4, 2022
• First Posted: May 9, 2022
• Study Start: October 19, 2022
• Primary Completion: February 17, 2024
• Study Completion: February 17, 2024
• Last Updated: March 7, 2025

Record last verified: 2025-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (2)