This study aims to describe adult patients with spinal muscular atrophy (SMA) in terms of their demographic and clinical characteristics, treatment patterns and healthcare resource utilization. If possible, it will also explore how adult patients with SMA newly treated with risdiplam (EVRYSDI®) compared with patients who are not receiving disease-modifying therapy (DMT).

Risdiplam is a DMT approved for the treatment of SMA. The efficacy of risdiplam has been demonstrated in clinical trials that included adult patients, but the real-world effectiveness of risdiplam in adults has not yet been extensively investigated. Natural history studies have shown a slow, progressive decline in motor function in adult patients with SMA. It remains unclear how treatment with risdiplam may influence this trajectory in a real-world clinical setting.

This non-interventional, retrospective cohort study will use data from seven registries (clinician and patient reported) from within the TREAT-NMD network (Australia, Belgium, Canada, Czech Republic & Slovakia, Germany & Austria, Ukraine, and UK & Ireland) to identify adult patients with SMA treated with risdiplam and compare with an untreated patient population, in registries deemed feasible for a comparative analysis. Appropriate adjustment methods will be explored to adjust for potential confounders, and appropriate statistical models will be used to perform comparisons with untreated patients.

The analysis of this study is ongoing as of the submission of this abstract. Available data from the comparative analyses will be presented.

There is limited published real-world evidence of risdiplam in adult patients with SMA. Further research is needed to better understand the effectiveness of risdiplam in this understudied population and to compare treated and untreated patients. This study will provide additional evidence to fill this gap and further support the understanding of treatment effectiveness in adults with SMA.