French Register of Patients With Spinal Muscular Atrophy — SMA  

Spinal Muscular Atrophy Clinical Trial

Official title: French Register of Patients With Spinal Muscular Atrophy

Status Recruiting

Clinical Trial Summary

The primary objectives of the study are to obtain clinically meaningful data on survival and outcomes of all the patients with spinal muscular atrophy (SMA) 5q types 1 through 4 (according to international classification), being followed in the reference centers of the disease in France between September 1, 2016 and August 31, 2024. The registry will collect retrospectively and prospectively the longitudinal data of the long-term follow-up for child and adult patients, under real life conditions of current medical practice, in order to document the clinical evolution of patients (survival, motor, respiratory, orthopedic and nutritional), the conditions of use of the treatments, the mortality rates of treated and untreated patients, the tolerance of the treatments, adverse events in order to better define their places in the therapeutic strategy.

Clinical Trial Description

As secondary objectives, the study aims: - to estimate the frequencies of patients with SMA 5q types 1 through 4 who have being treated in the reference centers between September 1 2016 and August 31 2024; - to describe overall demographic, familial, clinical, biological, and genetic characteristics of SMA 5q patients treated in all regions of France, by the type of SMA (type 1,2,3, and 4); - to study the impact of proactive and symptomatic medical interventions (bracing, IPPB devices) and medications (vaccinations, anti-infectious, digestive, nutritional supplements) in the evolution of patients; - to study the long-term evolution (survival, motor and respiratory functions, spinal shape, growth and nutritional function) of SMA 5q in treated and untreated populations, by new available therapies, throughout the register; - to study mortality rate of SMA 5q in treated and untreated populations, by new available therapies, throughout the register; - to identify and document the different therapeutic strategies by sub-populations and by discontinuation or follow-up of treatments; - to evaluate prognostic factors of responses to therapies; - to study the tolerance of treatments by type of treatments, by type of SMA and overall tolerance (including adverse events); - to estimate the costs of care for SMA 5q patients in different groups (types, ages); - to provide needful elements to evaluate the health care costs for the disease; - to study the autonomy and the quality of life of patients depending on different therapeutic strategies; - to study the impact of the disease on caregivers; - to facilitate development of scientific research on SMA in the conduct of trials on new therapeutic strategies. ;

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Spinal Muscular Atrophy

• NCT number: NCT04177134
• Study type: Observational [Patient Registry]
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: Susana Quijano-Roy, MD, PhD
• Phone: +33147107890
• Email: susana.quijano-roy@aphp.fr
• Status: Recruiting
• Start date: January 31, 2020
• Completion date: January 31, 2029