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August 7, 2026Orphanet Journal of Rare DiseasesOpen Access

Use of European registries to characterise the changing landscape of disease progression and treatment of spinal muscular atrophy (SMA): opportunities, pitfalls and challenges

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Key result

Disease-modifying treatments reach ~60% of SMA patients, though missing data limits functional outcome evaluation.

  • n=2,188

Why the study?

Since the approval of new disease-modifying treatments, studies have reported changes in spinal muscular atrophy disease progression.

Does treatment with disease-modifying therapies improve functional status and motor milestones in patients with 5q spinal muscular atrophy compared to untreated patients?

Population

2,188 patients with genetically confirmed 5q SMA across nine European countries

Comparison

Treated with disease-modifying treatments vs never treated

Design

Retrospective cohort study

Authors

NDNicolas DeltourIberia (Spain)SLSeung Yeon LeeSemyung UniversityEGElizabeth M. GarryFederal Reserve

Discussion

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Implication

DMT exposure was associated with altered SMA progression; leaves open comparative effectiveness and durability across therapies in broader populations.

Key Points

  • This study aims to analyze the changing landscape of disease progression and treatment in spinal muscular atrophy using European registries.
  • Retrospective cohort study analyzing six SMA registries within the TREAT-NMD network.
  • Data collected from nine European countries between April 2008 and May 2023.
  • Assessment of treatment prevalence and functional outcomes among 2,188 genetically confirmed SMA patients.
  • Among patients, 60.4% received at least one disease-modifying treatment (DMT).
  • Highest functional status reported was 'walker' for 87.8% of SMA3 patients, indicating significant motor achievement.
  • Data missingness for functional status and milestones was lower among treated patients compared to never-treated patients.

Study Design

Type

Cohort (n=2,188)

Multicenter

Yes

Structured PICO

Does treatment with disease-modifying therapies improve functional status and motor milestones in patients with 5q spinal muscular atrophy compared to untreated patients?

P
Population
2,188 patients with genetically confirmed 5q spinal muscular atrophy from nine European countries, followed for an average of 51.6 to 96.9 months.
E
Exposure
Disease-modifying treatments (DMTs) including nusinersen, risdiplam, and onasemnogene abeparvovec-xioi.
C
Comparator
Never-treated patients (no record of DMT treatment in the registry).
O
Outcome
Best functional status and best motor milestone recorded before and after treatment.

Real-world European registry data demonstrates functional milestones achieved by SMA patients on disease-modifying therapies, though high data missingness limits robust comparisons with untreated cohorts.

Limitations

  • High amount of missingness for functional status and other key variables, particularly among never-treated patients.
  • Differences in data collection and study populations across clinician-reported and patient-reported registries.
  • Potential under-representation of SMA type 1 cases due to insufficient time to register before early mortality.
  • Over half of never-treated patients were lost to follow-up, limiting meaningful comparisons.
  • High missingness of functional status and motor milestones before treatment or in never-treated patients
  • Missingness of key variables including reason for genetic testing, method of genetic testing, and age at symptom onset
  • Differences in functional status assessment and definitions across different country registries
  • Potential under-representation of SMA1 cases due to insufficient time to register before early mortality

Cite This Study

Deltour et al. (2026) conducted a cohort in Spinal muscular atrophy (SMA) (n=2,188). Disease-modifying treatments (nusinersen, risdiplam, onasemnogene abeparvovec) vs. Never treated was evaluated on Best functional status and motor milestone. Among 2,188 patients with spinal muscular atrophy, 60.4% received at least one disease-modifying treatment, though high missingness of functional data in untreated patients limited evaluation of treatment-related changes.

synapsesocial.com/papers/6a758c2e847ab6d26c0200c0https://doi.org/10.1186/s13023-026-04491-3
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry2025 · 3 citations
  2. 2Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany2023 · 12 citations
  3. 3RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy2024 · 14 citations
  4. 4Evaluating Therapeutic Outcomes in Spinal Muscular Atrophy: An Indian Experience2025 · 1 citations
  5. 5A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study2024 · 2 citations