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

Journal: Neuromuscular disorders : NMD 2022;32(5):399-409

PMID: 35337708

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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.

Address: Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Pediatric Neurology, University Children's Hospital Basel, University of Basel, Basel, Switzerland.; Department of Neuropaediatrics, Children's Hospital of Eastern Switzerland, St.Gallen, Switzerland.; Pediatric Neurorology and Neurorehabilitation Unit, Lausanne University Hospital, Lausanne, Switzerland.; Department of Neurology, University Hospital Zurich, Zurich, Switzerland.; 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.; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland; Children's University Hospital, Inselspital, University of Bern, Bern, Switzerland.; Neuromuscular Diseases Unit/ALS Clinic, Cantonal Hospital St. Gallen, St. Gallen, Switzerland.; 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].

DOI: 10.1016/j.nmd.2022.02.001

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MeSH Terms: Adolescent, Adult, Child, Child, Preschool, Humans, Infant, Muscular Atrophy, Spinal, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Switzerland, Young Adult