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 type

• Study type:
  Non-interventional study
• Scope of the study:
  Disease epidemiology

  Drug utilisation

Non-interventional study

• Non-interventional study design:
  Cohort

Study drug and medical condition

• Medical condition to be studied:
  Spinal muscular atrophy

Population studied

• Age groups:
  Preterm newborn infants (0 – 27 days)

  Term newborn infants (0 – 27 days)

  Infants and toddlers (28 days – 23 months)

  Children (2 to < 12 years)

  Adolescents (12 to < 18 years)

  Adult and elderly population (≥18 years)

  Adults (18 to < 65 years)

  Adults (18 to < 46 years)

  Adults (46 to < 65 years)

  Elderly (≥ 65 years)

  Adults (65 to < 75 years)

  Adults (75 to < 85 years)

  Adults (85 years and over)
• Estimated number of subjects:
  2188

Study design details

• Main study objective:
  To describe, by SMA type, the natural history of SMA in the UNTREATED cohort and the TREATED cohort also stratified by DMT, incl patients characteristics, disease progression 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.
• Data analysis plan:
  Mainly descriptive study

Documents

Study report

SIGNED-SMA EMA - Report - FINAL- April 5 2024 + Appendix D-E-F.docx_.pdf

Study, other information

Objective 0 (Preliminary) Results

Objective 1 (Natural History) Results

Objective 2 (Healthcare) Results

Supplementary Results Objective 1 (Natural History)

Supplementary Results Objective 2 (Healthcare)