Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study
Authors: Pechmann Astrid ,   SMArtCARE Study Group Ameshofer Lisa Andres Barbara Angelova-Toshkina Daniela Banholzer Daniela Bant Christina Baum Petra Baumann Sandra Baur Ute Behring Bettina Bellut Julia Bertsche Astrid Bevot Andrea Bischofberger Jasmin Bitzan Lisa Bjelica Bogdan Blankenburg Markus Böger Sandra Bonetti Friederike Bongartz Anke Brakemeier Svenja Bratka Lisa Braun Nathalie Braun Sarah Brauner Brigitte Bretschneider Christa Burgenmeister Nadine Burke Bea Cirak Sebahattin Cordts Isabell Dall Andrea de Vries Heike Della Ma, Behrens Max , Dörnbrack Katharina , Tassoni Adrian , Wenzel Franziska , Stein Sabine , Vogt Sibylle , Zöller Daniela , Bernert Günther , Hagenacker Tim , Schara-Schmidt Ulrike , Walter Maggie C. , Steinbach Meike , Blaschek Astrid , Baumann Matthias , Baumgartner Manuela , Becker Benedikt , Flotats-Bastardas Marina , Friese Johannes , Günther Rene , Hahn Andreas , Küpper Hanna , Johannsen Jessika , Kamm Christoph , Koch Jan Christoph , Köhler Cornelia , Kölbel Heike , Kolzter Kirsten , von Moers Arpad , Naegel Steffen , Neuwirth Christoph , Petri Susanne , Rödiger Annekathrin , Schimmel Mareike , Schrank Bertold , Schreiber Gudrun , Smitka Martin , Stadler Christian , Steiner Elisabeth , Stögmann Eva , Trollmann Regina , Türk Matthias , Weiler Markus , Stoltenburg Corinna , Willichowsky Ekkehard , Zeller Daniel , Ziegler Andreas , Lochmüller Hanns , Kirschner Janbernd 
Published: December 2022

Background and objectives: Disease progression in patients with spinal muscular atrophy (SMA) has changed dramatically within the past years due to the approval of three different disease-modifying treatments. Nusinersen was the first drug to be approved for the treatment of SMA patients. Clinical trials provided data from infants with SMA type 1 and children with SMA type 2, but there is still insufficient evidence and only scarcely reported long-term experience for nusinersen treatment in ambulant patients. Here, we report data from the SMArtCARE registry of ambulant patients under nusinersen treatment with a follow-up period of up to 38 months. Methods: SMArtCARE is a disease-specific registry in Germany, Austria and Switzerland. Data are collected as real-world data during routine patient visits. Our analysis included all patients under treatment with nusinersen able to walk independently before start of treatment with focus on changes in motor function. Results: Data from 231 ambulant patients were included in the analysis. During the observation period, 31 pediatric walkers (27.2%) and 31 adult walkers (26.5%) experienced a clinically meaningful improvement of≥30 m in the 6-Minute-Walk-Test. In contrast, only five adult walkers (7.7%) showed a decline in walking distance≥30 m, and two pediatric walkers (1.8%) lost the ability to walk unassisted under treatment with nusinersen. HFMSE and RULM scores improved in pediatric and remained stable in adult patients. Conclusion: Our data demonstrate a positive effect of nusinersen treatment in most ambulant pediatric and adult SMA patients. We not only observed a stabilization of disease progression or lack of deterioration, but clinically meaningful improvements in walking distance.