Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
Orphanet Journal of Rare Diseases, Volume 17, No. 1, Article 384, Year 2022
Notification
URL copied to clipboard!
Description
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. © 2022, The Author(s).
Authors & Co-Authors
Hagenacker, Tim
Germany, Essen
Medizinischen Fakultät
Walter, Maggie Christine
Germany, Munich
Ludwig-maximilians-universität München
Vill, Katharina
Germany, Munich
Ludwig-maximilians-universität München
Baumann, Matthias
Austria, Innsbruck
Medizinische Universitat Innsbruck
Baumgartner, Manuela
Unknown Affiliation
Cordts, Isabell
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
Jahnel, Jörg
Austria, Graz
Medizinische Universität Graz
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
Wilichowski, Ekkehard K.G.
Germany, Gottingen
Georg-august-universität Göttingen
Ziegler, Andreas E.
Germany, Heidelberg
Universitätsklinikum Heidelberg
Lochmüller, Hanns
Germany, Freiburg Im Breisgau
Universität Freiburg
Canada, Ottawa
Université D'ottawa, Faculté de Médecine
Kirschner, Janbernd
Germany, Freiburg Im Breisgau
Universität Freiburg
Baum, Petra
Unknown Affiliation
Bevot, Andrea
Unknown Affiliation
Blankenburg, M. R.
Unknown Affiliation
Cirak, Sebahattin
Unknown Affiliation
Denecke, Jonas
Unknown Affiliation
Deschauer, Marcus
Unknown Affiliation
Hartmann, Hans
Unknown Affiliation
Hoffmann, Georg Friedrich
Unknown Affiliation
Huppke, Peter
Unknown Affiliation
Koch, Johannes
Unknown Affiliation
Küpper, Hanna
Unknown Affiliation
Lehmann, Helmar Christoph
Unknown Affiliation
Lingor, Paul
Unknown Affiliation
Löscher, Wolfgang N.
Unknown Affiliation
Plecko, Barbara R.
Unknown Affiliation
Saffari, Afshin
Unknown Affiliation
Schlotter-Weigel, Beate
Unknown Affiliation
Schorling, David Christof
Unknown Affiliation
Wiethoff, Sarah
Unknown Affiliation
Zemlin, Michael
Unknown Affiliation
Statistics
Citations: 7
Authors: 39
Affiliations: 30
Identifiers
Doi:
10.1186/s13023-022-02547-8
ISSN:
17501172
Research Areas
Health System And Policy
Maternal And Child Health
Study Design
Cohort Study