French Register of Patients With Spinal Muscular Atrophy

Обзор

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.

Подробное описание

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.

Первичные конечные точки

• Motor functional development or status [Срок оценки: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year]
• Motor function scores [Срок оценки: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year]
• Yearly changes of morbi-mortality-vital events [Срок оценки: 9 years]
• Respiratory events [Срок оценки: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year]
• Digestive-nutritional events [Срок оценки: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year]
• Yearly changes of spinal events [Срок оценки: 9 years]

Вторичные конечные точки (12)

• Frequency [Срок оценки: through study completion, an average of 9 year]
• Responses to the treatments (nusinersen and salbutamol) [Срок оценки: 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year]
• Spinal status [Срок оценки: 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year]
• Impact of spinal surgery techniques in scoliosis [Срок оценки: 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year]
• Mortality [Срок оценки: at 1, 2 and 5 years]
• Pulmonary function [Срок оценки: at 6 months]
• Respiratory muscles performance [Срок оценки: at 6 months]
• Pulmonary function [Срок оценки: at 6 months]
• Cardiological parameter [Срок оценки: through study completion, an average of 9 year]
• Cardiological function and anatomy [Срок оценки: through study completion, an average of 9 year]
• Biomarkers [Срок оценки: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year]
• Patient's quality of life: PedsQL (Pediatric Quality of Life Inventory) Child report [Срок оценки: baseline, 1 year, 2 year, 3 year, 4 year, 5 year, 6 year, 7 year, 8 year and 9 year]

Критерии участия

Критерии включения

• Genetically confirmed SMA 5q patients through 1 to 4 types treated in reference centers in France between September 1, 2016 and August 31, 2024.
• for prospective study: inform consent form signed by patient.
• for retrospective data: information form with non-opposition have been given to participant.
• Covered by a health insurance.

Критерии исключения

• Other type of SMA (not 5q).
• Under guardianship or curatorship.
• Unable to understand french language.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Франция · 1 центр

• Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, (French neuromusc — Garches

Публикации

• Grimaldi L, Garcia-Uzquiano R, de la Banda MG, Oulhissane-Omar A, Tard C, Saugier-Veber P, Laugel V, Desguerre I, Cintas P, Vuillerot C, Audic F, Cances C, Stojkovic T, Urtizberea JA, Attarian S, Ropars J, Quijano-Roy S; Registre SMA France Study Group. REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France. J Neuromuscul Dis. 2025 Nov;12(6):793 PMID 40625130
• Gerin L, Ropars J, Garcia-Uzquiano R, Gomez-Garcia De la Banda M, Saugier-Veber P, Desguerre I, Salort-Campana E, Espil C, Barnerias C, Laugel V, Cances C, Audic F, Cintas P, Le Goff L, Mallaret M, Nougues MC, Drunat S, Tard C, Grimaldi L, Quijano-Roy S; R-SMA Study Group (FILNEMUS). Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population: Registre SMA France. Neurol Gen PMID 40212804

Идентификаторы

NCT: NCT04177134 · APHP190245 · N° IDRCB: 2019-A01161-56

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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