A registry-based cohort study of Spinal Muscular Atrophy (SMA) disease to describe the natural history of SMA, the evolution of SMA care management and disease progression considering new disease modifying therapies (DMTs).

Study identification

• PURI:
  https://redirect.ema.europa.eu/resource/50477
• EU PAS number:
  EUPAS50476
• Study ID:
  50477
• Official title and acronym:
  A registry-based cohort study of Spinal Muscular Atrophy (SMA) disease to describe the natural history of SMA, the evolution of SMA care management and disease progression considering new disease modifying therapies (DMTs).
• DARWIN EU® study:
  No
• Study countries:
  Austria

  Belgium

  Czechia

  Germany

  Ireland

  Slovakia

  Spain

  Sweden

  United Kingdom
• Study description:
  To investigate SMA patients’ course of disease and standards of care delivery over time in multiple European countries: ; Objective 1: To describe, by SMA type, the natural history of SMA (the disease and its progression) in the UNTREATED cohort and the TREATED cohort also stratified by DMT, including patients characteristics, disease progression based on motor function assessment as well as respiratory, nutritional and skeletal deformities, post-diagnostic outcomes of interest and serious adverse events of special interest. ; Objective 2: To describe by SMA type the evolution of diagnosis methods and of medicinal and non-medicinal treatment over time, including adoption of DMTs in the “ALL” cohort and the DMTs patterns.
• Study status:
  Ongoing

Research institution and networks

Institutions

Aetion

Spain

- Swedish National Registry for Neuromuscular disorder (Neuromuskulära sjukdomar i Sverige - NMiS), Sweden
- Belgian Neuromuscular Diseases Registry (BNMDR), Belgium
- REaDY, Czech Republic & Slovakia
- Registro Nacional de Pacientes de la Fundación Atrofia Muscular Espinal (FundAME), Spain
- DMD- und SMA-Patientenregister für Deutschland und Österreich), Germany & Austria
- UK SMA Patient Registry, UK & Ireland

Networks

Translational Research in Europe - Assessment and Treatment of Neuromuscular Diseases (TREAT-NMD)

Study timelines

Date when funding contract was signed

Planned: 06/04/2022

Actual: 06/04/2022

Study start date

Planned: 05/12/2022

Actual: 27/01/2023

Data analysis start date

Planned: 27/01/2023

Actual: 15/03/2023

Date of interim report, if expected

Actual: 11/10/2023

Date of final study report

Planned: 02/06/2023

Sources of funding

EMA

EU institutional research programme

Study protocol

Initial protocol

Protocol_EMA_SMA Version 1.3 Signed March 3 2023 (1)

Regulatory

• Was the study required by a regulatory body?:
  Yes
• Is the study required by a Risk Management Plan (RMP)?:
  Not applicable