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

Anne Tscherter; Christina T Rüsch; Dominique Baumann; Cornelia Enzmann; Oswald Hasselmann; David Jacquier; Hans H Jung; Michelle E Kruijshaar; Claudia E Kuehni; Christoph Neuwirth; Georg M Stettner; Andrea Klein; Swiss-Reg-NMD group

doi:10.1016/j.nmd.2022.02.001

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

Neuromuscul Disord. 2022 May;32(5):399-409. doi: 10.1016/j.nmd.2022.02.001. Epub 2022 Feb 9.

Collaborators

Swiss-Reg-NMD group:
Dominique Baumann¹, Cornelia Enzmann³, Oswald Hasselmann⁴, David Jacquier⁵, Hans H Jung⁶, Andrea Klein¹¹, Michelle E Kruijshaar⁷, Claudia E Kuehni⁸, Nadine Lötscher¹, Christoph Neuwirth⁹, Gian P Ramelli¹², Paolo Ripellino¹³, Oliver Scheidegger¹⁴, Georg M Stettner², Anne Tscherter¹, David-Alexander Wille²

Affiliations

¹ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
² Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
³ Pediatric Neurology, University Children's Hospital Basel, University of Basel, Basel, Switzerland.
⁴ Department of Neuropaediatrics, Children's Hospital of Eastern Switzerland, St.Gallen, Switzerland.
⁵ Pediatric Neurorology and Neurorehabilitation Unit, Lausanne University Hospital, Lausanne, Switzerland.
⁶ Department of Neurology, University Hospital Zurich, Zurich, Switzerland.
⁷ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherland.
⁸ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland; Children's University Hospital, Inselspital, University of Bern, Bern, Switzerland.
⁹ Neuromuscular Diseases Unit/ALS Clinic, Cantonal Hospital St. Gallen, St. Gallen, Switzerland.
¹⁰ Pediatric Neurology, University Children's Hospital Basel, University of Basel, Basel, Switzerland; Division of Neuropaediatrics, Development and Rehabilitation, University Children's Hospital Bern, Inselspital, University of Bern, Bern, Switzerland. Electronic address: [email protected].
¹¹ Pediatric Neurology, University Children's Hospital Basel, University of Basel, Basel, Switzerland; Division of Neuropaediatrics, Development and Rehabilitation, University Children's Hospital Bern, Inselspital, University of Bern, Bern, Switzerland.
¹² Neuropediatric Unit, Pediatric Institute of Southern Switzerland, Ospedale San Giovanni, Bellinzona, Switzerland.
¹³ Neurocenter of Southern Switzerland, Lugano, Switzerland.
¹⁴ Centre for Neuromuscular Diseases, Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

PMID: 35337708
DOI: 10.1016/j.nmd.2022.02.001

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

Publication types

Multicenter Study
Observational Study
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Child
Child, Preschool
Humans
Infant
Muscular Atrophy, Spinal*
Oligonucleotides / therapeutic use
Spinal Muscular Atrophies of Childhood* / drug therapy
Switzerland
Young Adult

Substances

Oligonucleotides
nusinersen