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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy
Brain, Volume 146, No. 2, Year 2023
Notification
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Description
5q-associated spinal muscular atrophy is a rare neuromuscular disorder with the leading symptom of a proximal muscle weakness. Three different drugs have been approved by the European Medicines Agency and Food and Drug Administration for the treatment of spinal muscular atrophy patients, however, long-term experience is still scarce. In contrast to clinical trial data with restricted patient populations and short observation periods, we report here real-world evidence on a broad spectrum of patients with early-onset spinal muscular atrophy treated with nusinersen focusing on effects regarding motor milestones, and respiratory and bulbar insufficiency during the first years of treatment. Within the SMArtCARE registry, all patients under treatment with nusinersen who never had the ability to sit independently before the start of treatment were identified for data analysis. The primary outcome of this analysis was the change in motor function evaluated with the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders and motor milestones considering World Health Organization criteria. Further, we evaluated data on the need for ventilator support and tube feeding, and mortality. In total, 143 patients with early-onset spinal muscular atrophy were included in the data analysis with a follow-up period of up to 38 months. We observed major improvements in motor function evaluated with the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Improvements were greater in children >2 years of age at start of treatment than in older children. 24.5% of children gained the ability to sit independently. Major improvements were observed during the first 14 months of treatment. The need for intermittent ventilator support and tube feeding increased despite treatment with nusinersen. Our findings confirm the increasing real-world evidence that treatment with nusinersen has a dramatic influence on disease progression and survival in patients with early-onset spinal muscular atrophy. Major improvements in motor function are seen in children younger than 2 years at the start of treatment. Bulbar and respiratory function needs to be closely monitored, as these functions do not improve equivalent to motor function. © 2023 Oxford University Press. All rights reserved.
Authors & Co-Authors
Hagenacker, Tim
Germany, Essen
Medizinischen Fakultät
Walter, Maggie Christine
Germany, Munich
Ludwig-maximilians-universität München
Baumann, Matthias
Austria, Innsbruck
Medizinische Universitat Innsbruck
Baumgartner, Manuela
Unknown Affiliation
Deschauer, Marcus
Germany, Munich
Technische Universität München
Hahn, Andreas
Germany, Giessen
Justus-liebig-universität Gießen
Horber, Veronka
Germany, Tubingen
Universitätsklinikum Und Medizinische Fakultät Tübingen
Husain, Ralf A.
Germany, Jena
Universitätsklinikum Jena Und Medizinische Fakultät
Johannsen, Jessika
Germany, Hamburg
Universitätsklinikum Hamburg-eppendorf
Kolbel, Heike
Germany, Duisburg
Universität Duisburg-essen
Schlachter, Kurt
Unknown Affiliation
Schreiber, Gudrun
Germany, Kassel
Klinikum Kassel Gmbh
Smitka, Martin
Germany, Dresden
Technische Universität Dresden
Vill, Katharina
Germany, Munich
Ludwig-maximilians-universität München
Ziegler, Andreas E.
Germany, Heidelberg
Universitätsklinikum Heidelberg
Lochmüller, Hanns
Germany, Freiburg Im Breisgau
Universität Freiburg
Canada, Ottawa
Children's Hospital of Eastern Ontario, Ottawa
Canada, Ottawa
L'hôpital D'ottawa
Canada, Ottawa
University of Ottawa
Kirschner, Janbernd
Germany, Freiburg Im Breisgau
Universität Freiburg
Germany, Bonn
Universitätsklinikum Bonn
Baum, Petra
Unknown Affiliation
Blankenburg, M. R.
Unknown Affiliation
Blaschek, Astrid
Unknown Affiliation
Cordts, Isabell
Unknown Affiliation
Della-Marina, Adela
Unknown Affiliation
Denecke, Jonas
Unknown Affiliation
Gruber-Sedlmayr, Ursula
Unknown Affiliation
von der Hagen, Maja
Unknown Affiliation
Hartmann, Hans
Unknown Affiliation
Hoffmann, Georg Friedrich
Unknown Affiliation
Kaindl, Angela M.
Unknown Affiliation
Kôlker, Stefan
Unknown Affiliation
Küpper, Hanna
Unknown Affiliation
Lingor, Paul
Unknown Affiliation
Löscher, Wolfgang N.
Unknown Affiliation
Müller-Felber, Wolfgang
Unknown Affiliation
Omran, Heymut
Unknown Affiliation
Plecko, Barbara R.
Unknown Affiliation
Saffari, Afshin
Unknown Affiliation
Schorling, David Christof
Unknown Affiliation
Thiele, Simone
Unknown Affiliation
Wilichowski, Ekkehard K.G.
Unknown Affiliation
Zemlin, Michael
Unknown Affiliation
Statistics
Citations: 10
Authors: 40
Affiliations: 26
Identifiers
Doi:
10.1093/brain/awac252
ISSN:
00068950
Research Areas
Food Security
Health System And Policy
Maternal And Child Health
Study Design
Cohort Study