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| Content Provider | Springer Nature : BioMed Central |
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| Author | Pechmann, Astrid Behrens, Max Dörnbrack, Katharina Tassoni, Adrian Wenzel, Franziska Stein, Sabine Vogt, Sibylle Zöller, Daniela Bernert, Günther Hagenacker, Tim Schara-Schmidt, Ulrike Walter, Maggie C. Bertsche, Astrid Vill, Katharina Baumann, Matthias Baumgartner, Manuela Cordts, Isabell Eisenkölbl, Astrid Flotats-Bastardas, Marina Friese, Johannes Günther, René Hahn, Andreas Horber, Veronka Husain, Ralf A. Illsinger, Sabine Jahnel, Jörg Johannsen, Jessika Köhler, Cornelia Kölbel, Heike Müller, Monika von Moers, Arpad Schwerin-Nagel, Annette Reihle, Christof Schlachter, Kurt Schreiber, Gudrun Schwartz, Oliver Smitka, Martin Steiner, Elisabeth Trollmann, Regina Weiler, Markus Weiß, Claudia Wiegand, Gert Wilichowski, Ekkehard Ziegler, Andreas Lochmüller, Hanns Kirschner, Janbernd |
| Abstract | Background The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the treatment of SMA patients irrespective of age and disease severity. Most data on therapeutic efficacy are available for the infantile-onset SMA. For patients with SMA type 2 and type 3, there is still a lack of sufficient evidence and long-term experience for nusinersen treatment. Here, we report data from the SMArtCARE registry of non-ambulant children with SMA type 2 and typen 3 under nusinersen treatment with a follow-up period of up to 38 months. Methods SMArtCARE is a disease-specific registry with data on patients with SMA irrespective of age, treatment regime or disease severity. Data are collected during routine patient visits as real-world outcome data. This analysis included all non-ambulant patients with SMA type 2 or 3 below 18 years of age before initiation of treatment. Primary outcomes were changes in motor function evaluated with the Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM). Results Data from 256 non-ambulant, pediatric patients with SMA were included in the data analysis. Improvements in motor function were more prominent in upper limb: 32.4% of patients experienced clinically meaningful improvements in RULM and 24.6% in HFMSE. 8.6% of patients gained a new motor milestone, whereas no motor milestones were lost. Only 4.3% of patients showed a clinically meaningful worsening in HFMSE and 1.2% in RULM score. Conclusion Our results demonstrate clinically meaningful improvements or stabilization of disease progression in non-ambulant, pediatric patients with SMA under nusinersen treatment. Changes were most evident in upper limb function and were observed continuously over the follow-up period. Our data confirm clinical trial data, while providing longer follow-up, an increased number of treated patients, and a wider range of age and disease severity. |
| Related Links | https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-022-02547-8.pdf |
| Ending Page | 10 |
| Page Count | 10 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 17501172 |
| DOI | 10.1186/s13023-022-02547-8 |
| Journal | Orphanet Journal of Rare Diseases |
| Issue Number | 1 |
| Volume Number | 17 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2022-10-23 |
| Access Restriction | Open |
| Subject Keyword | Medicine Public Health Pharmacology Toxicology Human Genetics Spinal muscular atrophy Nusinersen Sitter Later-onset SMArtCARE Medicine/Public Health Pharmacology/Toxicology |
| Content Type | Text |
| Resource Type | Article |
| Subject | Pharmacology (medical) Genetics (clinical) |
| Journal Impact Factor | 3.4/2023 |
| 5-Year Journal Impact Factor | 3.9/2023 |
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