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

Real-world treatments for 5q-spinal muscular atrophy (SMA) have evolved rapidly following the sequential approval of three disease-modifying treatments (DMTs): nusinersen, onasemnogene abeparvovec and risdiplam. The aim of this study was to map the sequence and timing of SMA treatments accurately using the SMArtCARE registry, a disease-specific registry for patients with SMA across 84 participating centres 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 impacts 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 2140 patients were included. Of these, 1294 patients (60.5%) initiated treatment with nusinersen, 514 patients (24.0%) with risdiplam and 243 patients (11.4%) with onasemnogene abeparvovec. Overall, 1366 patients (63.8%) remained on the first DMT. Most treatment 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. Although most patients remained on the first DMT, switches were observed, mainly after DMT approvals. Decisions to switch appear multifactorial and are not related directly to motor function effectiveness.

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Journal
Brain
Published
2025-12-20
DOI
https://doi.org/10.1093/brain/awaf472
Citations
1
Primary Topic
Neurogenetic and Muscular Disorders Research
Type
article
Field-Weighted Citation Impact
1.63

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

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1 citations
Brain
Neurogenetic and Muscular Disorders Research
1.63
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Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry

Vladimir Dukic, Lena Ruß, Matthias Baumann, Johannes Stoffels, Stephan Wenninger, Anna Hotter, Gilbert Wunderlich, Sarah Wiethoff, Lisa Starke, Peter Reilich, Klaus Goldhahn, Nina Rademacher, Elke Pernegger, Marcus Deschauer, Petra Baum, Harald Binder, Katharina Dörnbrack, Jasmin Bischofberger, Sara-Maria Simon, Janbernd Kirschner, Daniela Steuernagel, Benjamin Stolte, Magdalena Gosk - Tomek, Nadin Fedtke, Astrid Eisenkölbl, Gabriel C. 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Wollinsky, Elisabeth Steiner, Christoph Neuwirth, Henriette Kiep, Sabine Illsinger, Deike Weiss, Adela Della Marina, Irene Lange, Michael Grässl, Michelle Pfaffenlehner, Paula Steffens, Eva Matzker, Marianne Rösner, Clemens G. Runge, Britta Holtkamp, Anna-Lena Fleischer, Anja Müller, Joanna Schneider, Ilka Lehnert, Günther Bernert, Christian Lechner, Kyriakos Martakis, Oliver Summ, Elke Tiefenthaler, F.W. Busch, Maja von der Hagen, Eva Jansen, Hakan Çetin, Moritz Niesert, Christof Reihle, Maren Hackenberg, Simone Thiele, Katia Vettori, Alexandra Klotz, Juliane Hug, Kathrin Mörtlbauer, Hanns Lochmüller, Manuel Pühringer, Nadja Kaiser, Lutz Dondit, Christa Bretschneider, Alexandra L. Wagner, H Kölbel, Michael Zemlin, R. Janssen, Astrid Bertsche, Janina von der Gablentz, Bettina Behring, Jakob Rath, Corinna Stoltenburg, Stefanie Friedrich, Thomas Kendzierski, Timo Deba, Saskia Beyer, Martin Krenn, Veronika Pilshofer, Christine Leypold, Gerd Meyer zu Hörste, Tanja Zindler, Brigitte Brauner, Patricia Müller, Doris Roland-Schäfer, Sabine Wider, Sindy Becker, Zoé Messerli, Barbara Ramadan, Melina Schlag, Sandra Nebgen, Ulf Hustedt, Kornelia Kreiser, Corinna Rademacher, Ute Weyen, Gudrun Zulehner, Raphael Seebröker, Martin Fleger, Isabell Cordts, Josefin Grabow, Franziska Wenzel, Dorothea Holzwarth, Geerthe Margriet Balk, Jolanta Heinzinger, Uta Smesny, Sabrina Geißler, Nicole Claus, A. Hüpper, Pascal G.P. Martin, Anna Wiesenhofer, Marie-Luise Drax, Martina Patrizia Neininger, Georg F. 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Bartels, Caroline Bergner, Paul Lingor, B Messmer, Bernd Friedrich, E Settel, Svenja Neuhoff, Ricarda von Heynitz, Urania Kotzaeridou, Annika Roser-Unruh, Cornelia Voigt-Müller, Günther René, Jörg Tiedemann, Nina Schlaghecke, Claudia Weiß, Anne-Katrin Güttsches, Julia Maren Lüttgenau, Miriam Hiebeler, Jana Barluschke, Julia Seifert, Mirjam Spitzinger, Anja Boegner, Eleni Chatzizisi, Christine Mauz, Max Behrens, Jessika Johannsen, Julian Großkreutz, Margrit Koglin, Victoria Göbel, Jakob Wefers, Tobias Geis, Shalin Nerkamp, Heike Losch, Laura Kahle, Ralf A Husain, Eva Jung, Anna Resch, Zylfije Dibrani, Jessica Ribke, Lisa Jung, Angela Kaindl, Wolfgang Müller-Felber, Nicole Groß, Sybille Döhler, Astrid Blaschek, Martina Delitz, Barbara Plecko, Almut Fritsch, Meike Kahrs, Anja Meenken, Lukas Nalbach, Jaquelina Lipka, Sandy Förster, Ilona Krauspe-Stübecke, Antje Schmidt, Andreas Merkenschlager, Ulrike Wolf, Lena Manssen, Astrid Pechmann, Simone Mahal, Florian Junge, Ingo Conze, Tanja Neumair, Marina Flotats-Bastardas, Alexandra Giese, Dorothee Fütterer, Mathias Müller, Thomas Dörnen, Franziska Grünberg-Lemi, Daniel Zeller, Melanie Haage-Brüning, Mario Müller, Sebastian Plutz, Rike Remmert, Mohammad Kalaf, Bernhard Fasching, Anna-Maria Gaese, Beate Schlotter-Weigel, Ursula Schneider Rosinger, Renate Peters, Birgit Kauffmann, Melanie Drabant, Katja Koch, Daniel Bormann, Laura Stimmer, Elke Preisendanz, Katharin Müller-Kaempffer, Zeljko Uzelac, Ramona Menzel, Kirsten Fündeling-Tielitz, Annekathrin Rödiger, Annika Meenken, Christian Pfeuffer, Meret Tabea Dreyer, Monika Meyer, Eva Wendel, Franz-Philipp Brändle, David Leibensperger, Krisitin Kook, Ilka Schneider, Matthias Vorgerd, Beate Muschner, Katharina Unverfehrt, Lisa Valerie Bitzan, Iris Hannibal, Corrine G C Horlings, Marieke Ziegler, Astri Fromm, Johannes Flammer, Heidi Starke, Alina Sapranidis, Aglaia Lütjens, Sabine Specht, Raffi Topakian, Aneliya Simeonova Eroglu, Hans Hartmann, Johannes Dorst, Andreas Ziegler, Ronny Nebelung, Friederike Sophie Kohlmann, Tajana Brunckhorst, Adrian Tassoni, Sybille Stephan-Lutter, Karsten Krause, Julia Turowski, Karin Wabnegger, Fritz Zimprich, Magnus Ruf, Markus Blankenburg, Harald Faninger, Benjamin Ilse, Jonas Denecke, Lukas Neubauer, Wolfgang Löscher, Petra Müller, SMArtCARE study group, Inka Brandes, Janina Gburek-Augustat, Marion Pilz, Patrick Weydt, Frauke Ehrhardt, Barbara Schwegmann, Hélène Guillemot, Barbara Vogel, Andor Horváth, Stephanie Molitor, Hanna Reinke-Hermer, Sabine Knafl-Slamanig, Kerstin Böcking, Eckard Hamelmann, Elena Gantschew, Lisa Allenstein, Jennifer Rolack, Martin Drechsel, Thomas M K Völkl, Kathrin Hornung, Maria Rehfeldt, Katrin Schüler, Janina Fürup, Maggie C Walter, Esther Maihöfer, Katharina Wagner, Caroline Deborah Stapf, Heidrun Krämer-Best, Katharina Vill, Max Obenauf, Petra Rau, Matthias Türk, Alexander Bobe, Marian Kollaske, Katja D’Amico-Hofmann, Christine Sprengart, Manuela Theophil, Moritz Metelmann
article en
1 citations

Abstract

Real-world treatments for 5q-spinal muscular atrophy (SMA) have evolved rapidly following the sequential approval of three disease-modifying treatments (DMTs): nusinersen, onasemnogene abeparvovec and risdiplam. The aim of this study was to map the sequence and timing of SMA treatments accurately using the SMArtCARE registry, a disease-specific registry for patients with SMA across 84 participating centres 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 impacts 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 2140 patients were included. Of these, 1294 patients (60.5%) initiated treatment with nusinersen, 514 patients (24.0%) with risdiplam and 243 patients (11.4%) with onasemnogene abeparvovec. Overall, 1366 patients (63.8%) remained on the first DMT. Most treatment 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. Although most patients remained on the first DMT, switches were observed, mainly after DMT approvals. Decisions to switch appear multifactorial and are not related directly to motor function effectiveness.

BrainVol. 149(3)
University of Freiburg (DE), Children's Hospital of Eastern Ontario (CA), University Medical Center Freiburg (DE), Vienna General Hospital (AT), LMU Klinikum (DE), Comprehensive Cancer Center Vienna (AT), Deutsche Gesellschaft für Muskelkranke (DE), Essen University Hospital (DE), Friedrich Baur Stiftung (DE), University of Duisburg-Essen (DE), Medical University of Vienna (AT), Ludwig-Maximilians-Universität München (DE)
Biogen
Good health and well-being
Openalex Percentile: Top 11%
Neurogenetic and Muscular Disorders Research
1.63
DOIOpen Access PDFOpenAlex
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