Orphanet Journal of Rare Diseases (Oct 2022)

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

  • Astrid Pechmann,
  • Max Behrens,
  • Katharina Dörnbrack,
  • Adrian Tassoni,
  • Franziska Wenzel,
  • Sabine Stein,
  • Sibylle Vogt,
  • Daniela Zöller,
  • Günther Bernert,
  • Tim Hagenacker,
  • Ulrike Schara-Schmidt,
  • Maggie C. Walter,
  • Astrid Bertsche,
  • Katharina Vill,
  • Matthias Baumann,
  • Manuela Baumgartner,
  • Isabell Cordts,
  • Astrid Eisenkölbl,
  • Marina Flotats-Bastardas,
  • Johannes Friese,
  • René Günther,
  • Andreas Hahn,
  • Veronka Horber,
  • Ralf A. Husain,
  • Sabine Illsinger,
  • Jörg Jahnel,
  • Jessika Johannsen,
  • Cornelia Köhler,
  • Heike Kölbel,
  • Monika Müller,
  • Arpad von Moers,
  • Annette Schwerin-Nagel,
  • Christof Reihle,
  • Kurt Schlachter,
  • Gudrun Schreiber,
  • Oliver Schwartz,
  • Martin Smitka,
  • Elisabeth Steiner,
  • Regina Trollmann,
  • Markus Weiler,
  • Claudia Weiß,
  • Gert Wiegand,
  • Ekkehard Wilichowski,
  • Andreas Ziegler,
  • Hanns Lochmüller,
  • Janbernd Kirschner,
  • SMArtCARE study group

DOI
https://doi.org/10.1186/s13023-022-02547-8
Journal volume & issue
Vol. 17, no. 1
pp. 1 – 10

Abstract

Read online

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.

Keywords