Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • University of Freiburg
  • Kaiser Franz Josef Hospital
  • University of Duisburg-Essen
  • Ludwig Maximilian University of Munich
  • University of Rostock
  • Innsbruck Medical University
  • Ordensklinikum Linz
  • Technical University of Munich
  • Kepler University Hospital
  • Saarland University
  • University of Bonn
  • Justus Liebig University Giessen
  • University of Tübingen
  • Friedrich Schiller University Jena
  • Hannover Medical School (MHH)
  • Medical University of Graz
  • University of Hamburg
  • Ruhr University Bochum
  • University of Würzburg
  • German Red Cross
  • Klinikum Stuttgart
  • Landeskrankenhaus Bregenz
  • Klinikum Kassel GmbH
  • University of Münster
  • Johannes Kepler University Linz
  • Friedrich-Alexander University Erlangen-Nürnberg
  • Heidelberg University 
  • Charité – Universitätsmedizin Berlin
  • Asklepios Clinic Hamburg Nord-Heidberg
  • University of Göttingen
  • University of Ottawa

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.

Details

Original languageEnglish
Article number384
JournalOrphanet journal of rare diseases
Volume17
Issue number1
Publication statusPublished - Dec 2022
Peer-reviewedYes

External IDs

PubMed 36274155

Keywords

Keywords

  • Later-onset, Nusinersen, Sitter, SMArtCARE, Spinal muscular atrophy

Library keywords