What question did this study set out to answer?

The aim was to map the sequence and timing of treatments for SMA using the SMArtCARE registry.

January 10, 2026Brain0 citationsOpen Access

Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry

CVCornelia Voigt-MüllerUniversity of Freiburg MPMichelle PfaffenlehnerUniversity of Freiburg GBGünther BernertSigmund Freud Privatuniversität Wien

Key Result

In a cohort of 2,140 SMA patients, 63.8% stayed on the first disease-modifying treatment, with most switches occurring after new treatment approvals.

Key Points

The aim was to map the sequence and timing of treatments for SMA using the SMArtCARE registry.
Analysis of data from SMArtCARE, a registry for SMA patients across 84 centers.
Grouping patients based on treatment regimens and switches between disease-modifying treatments.
Evaluation of clinical and genetic factors influencing treatment decisions.
Inclusion of all registered patients in the dataset.
2,140 patients were analyzed, with nusinersen initiating in 60.5% and risdiplam in 24%.
63.8% of patients remained on their first disease-modifying treatment.
Switching treatments occurred primarily after new DMT approvals.
No significant change in motor milestones was noted for most patients who switched treatments.

Structured PICO

What are the real-world treatment patterns and factors influencing treatment switches in patients with spinal muscular atrophy?

Population

2,140 patients with 5q-spinal muscular atrophy (SMA) registered in the SMArtCARE registry across 84 centers in Germany, Austria, and Switzerland.

Intervention

Disease-modifying treatments (DMT) for SMA: nusinersen, onasemnogene abeparvovec (OA), and risdiplam.

Comparator

Remaining on the first DMT versus switching to another DMT.

Outcome

Sequence and timing of SMA treatments, and the impact of clinical and genetic factors on treatment decisions.

In a large real-world registry of SMA patients, most remained on their initial disease-modifying therapy, with treatment switches primarily driven by new drug approvals rather than changes in motor function.

Main Result

Absolute Event Rate: 0% vs 0%

Abstract

Abstract Real world treatments for 5q-spinal muscular atrophy (SMA) have evolved rapidly following the sequential approval of three disease-modifying treatments (DMT): nusinersen, onasemnogene abeparvovec (OA) and risdiplam. The aim of this study was to accurately map the sequence and timing of SMA treatments using the SMArtCARE registry, a disease-specific registry for patients with SMA across 84 participating centers in Germany, Austria, and Switzerland. All patients registered in SMArtCARE were included in the analysis. Patients were grouped based on their treatment regimen: those who remained on the first DMT versus those who switched DMT. The impact of clinical and genetic factors on treatment decisions were evaluated, including age at initiation of treatment, SMN2 copy number, motor function status, the need for ventilator support or tube feeding, and the presence of scoliosis. A total of 2,140 patients were included. Of these, 1,294 patients (60.5%) initiated treatment with nusinersen, 514 patients (24.0%) with risdiplam, 243 patients (11.4%) with OA. Overall, 1,366 patients (63.8%) remained on the first DMT. Most treatments switches occurred shortly after approval of a new DMT. Notably, most patients who switched, showed no change in motor milestone status between the start of the first and the second DMT. In this large real-world cohort, we present the first comprehensive analysis of SMA treatment patterns across all age groups and disease severities. While most patients remained on the first DMT, switches were mainly observed after DMT approvals. Decisions to switch appear multifactorial and are not directly related to motor function effectiveness.

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