Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland.

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State: Public
Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_5D902D248BAA
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland.
Journal
Neuromuscular disorders
Author(s)
Tscherter A., Rüsch C.T., Baumann D., Enzmann C., Hasselmann O., Jacquier D., Jung H.H., Kruijshaar M.E., Kuehni C.E., Neuwirth C., Stettner G.M., Klein A.
Working group(s)
Swiss-Reg-NMD group
Contributor(s)
Baumann D., Enzmann C., Hasselmann O., Jacquier D., Jung H.H., Klein A., Kruijshaar M.E., Kuehni C.E., Lötscher N., Neuwirth C., Ramelli G.P., Ripellino P., Scheidegger O., Stettner G.M., Tscherter A., Wille D.A.
ISSN
1873-2364 (Electronic)
ISSN-L
0960-8966
Publication state
Published
Issued date
05/2022
Peer-reviewed
Oui
Volume
32
Number
5
Pages
399-409
Language
english
Notes
Publication types: Journal Article ; Multicenter Study ; Observational Study ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive disorder causing progressive proximal muscular, respiratory, and bulbar weakness. We present outcome data on motor function, ventilation, nutrition, and language development of SMA patients treated with nusinersen in Switzerland. This multicenter, observational study included 44 patients. At treatment initiation, after 2 months and then every 4 months we assessed motor function with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND), Hammersmith Functional Motor Scale expanded (HFMSE) and 6-Minute Walk Test (6MWT). At treatment initiation, patients were 0.1-44.6 years old, treatment duration ranged from 6 to 41 months. All 11 SMA type 1 children achieved higher CHOP-INTEND scores at the last assessment compared to treatment initiation, 4 acquired stable sitting. Six type 1 children were <18 months-old at treatment initiation. Two of them did not need ventilation or nutritional support at the last assessment; three had delayed language development and 3 articulation difficulties. 5/21 SMA type 2 patients achieved higher HFMSE scores. All ambulant type 3 patients showed a gain in the 6MWT. Nusinersen is an effective treatment, with gains in motor function occurring particularly in children and SMA type 1, but also in type 2 and 3, adolescents and adults.
Keywords
Adolescent, Adult, Child, Child, Preschool, Humans, Infant, Muscular Atrophy, Spinal, Oligonucleotides/therapeutic use, Spinal Muscular Atrophies of Childhood/drug therapy, Switzerland, Young Adult, Nusinersen, Real-life outcome data, Spinal muscular atrophy, Treatment efficacy
Pubmed
Web of science
Open Access
Yes
Create date
09/04/2022 19:42
Last modification date
04/11/2023 8:14
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