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

Tscherter, Anne; Rüsch, Christina T; Baumann, Dominique; Enzmann, Cornelia; Hasselmann, Oswald; Jacquier, David; Jung, Hans H; Kruijshaar, Michelle E; Kuehni, Claudia E; Neuwirth, Christoph; Stettner, Georg M; Klein, Andrea (2022). Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland. Neuromuscular disorders, 32(5), pp. 399-409. Elsevier 10.1016/j.nmd.2022.02.001

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Neuropaediatrics
04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Social and Preventive Medicine (ISPM)

UniBE Contributor:

Tscherter, Anne, Baumann Metzler, Dominique, Kruijshaar, Michelle Elisabeth, Kühni, Claudia, Klein, Andrea Katharina

Subjects:

600 Technology > 610 Medicine & health
300 Social sciences, sociology & anthropology > 360 Social problems & social services

ISSN:

0960-8966

Publisher:

Elsevier

Language:

English

Submitter:

Anette van Dorland

Date Deposited:

28 Mar 2022 12:17

Last Modified:

05 Dec 2022 16:17

Publisher DOI:

10.1016/j.nmd.2022.02.001

PubMed ID:

35337708

Additional Information:

Tscherter and Rüsch contributed equally to this work.

Swiss-Reg-NMD group: Oliver Scheidegger

Uncontrolled Keywords:

Nusinersen Real-life outcome data Spinal muscular atrophy Switzerland Treatment efficacy

BORIS DOI:

10.48350/168181

URI:

https://boris.unibe.ch/id/eprint/168181

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