(Vienna, 29 September 2025) An Austria-wide research team coordinated by MedUni Vienna has demonstrated for the first time in a large observational study that the drug risdiplam leads to a significant improvement in motor function in adult patients with 5q-associated spinal muscular atrophy (SMA). The results close an important evidence gap, as previous approval studies had mainly examined children.
The study included 57 adults with genetically confirmed SMA who had not previously received any disease-modifying therapy. Motor skills were regularly assessed using established clinical scales over a period of up to 24 months. Measurable improvements were already evident after a few months and persisted after 18 months and beyond.
"The fact that we observed not only stabilisation but also clinically significant improvement in patients with SMA is a remarkable finding," says Hakan Cetin from the Department of Neurology at MedUni Vienna and last author of the study. "This effect is particularly significant in a disease such as SMA, in which patients continuously lose abilities during the natural course of the disease."
Omar Keritam from the Department of Neurology, lead author of the study, also emphasises the significance of the results: "Until now, there has been no reliable data on the efficacy of risdiplam in adults. Our work shows for the first time, based on real-world data, that patients not only remain stable, but can actually improve functionally. This opens up a whole new therapeutic perspective for many affected individuals."
Spinal muscular atrophy is a rare genetic disorder characterised by progressive loss of nerve cells in the spinal cord and subsequent muscle wasting. Risdiplam has been approved in Europe for patients of all ages since 2021.
The study now published is the first multicentre observational study of this magnitude in adults worldwide and was conducted at eight neuromuscular centres in Austria. It makes a decisive contribution to the evidence base for the treatment of adults with SMA.
Publication: eClinicalMedicine
Efficacy and safety of risdiplam in adults with 5q-1 associated spinal muscular atrophy: a
nationwide observational cohort study in Austria
Omar Keritam, Marcus Erdler, Bernhard Fasching, Gudrun Zulehner, Jakob Rath, Martin Krenn, Thomas Waldhör, Victoria Anna Gruber, Nadine Langweil, Christian Kiss, Theresa Antonia Griedl, Valeriu Gold, Julia Wanschitz, Anna Hotter, Vera EA Kleinveld, Corinne GC Horlings, Astrid Erber, Eva Schernhammer, Johannes Troger, Susanne Grinzinger, Petra Müller, Dieter Langenscheidt, Mika Rap pold, Anna Wiesenhofer, Magdalena Gosk-Tomek, Florian Knipp, Simone Mahal, Günther Bernert, Matthias Baumann, Fritz Zimprich, Raffi Topakian, Christian Eggers, Stefan Quasthoff, Wolfgang Löscher, Hakan Cetin,
DOI: 10.1016/j.eclinm.2025.103536