Real-world data on the effect of long-term treatment with nusinersen over > 4 years in a cohort of Swiss patients with spinal muscular atrophy

Anne Tscherter¹, Leonie Steiner², Philip Julian Broser³, Cornelia Enzmann⁴, Elea Galiart⁵, Bettina Cornelia Henzi⁶, David Jacquier⁷, Andrea Maria Mathis⁸, Christoph Neuwirth⁹, Gian Paolo Ramelli¹⁰, Paolo Ripellino¹¹, Olivier Scheidegger¹², Bettina Schreiner¹³, Esther Irene Schwarz¹⁴, Georg Martin Stettner⁵, Andrea Klein²; Swiss-Reg-NMD Group

Affiliations

¹ Institute of Social and Preventive Medicine, University of Bern, Mittelstrasse 43, Bern 3012, Switzerland. Electronic address: anne.tscherter@unibe.ch.
² Division of Neuropediatrics, Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 15, Bern 3010, Switzerland.
³ Paediatric Neurology, Children's Hospital of Eastern Switzerland, Claudiusstrasse 6, 9000 St. Gallen, Switzerland; Medical Faculty, University of Basel, Klingelbergstrasse 61, Basel 4056, Switzerland.
⁴ Division of Neuropediatrics and Developmental Medicine, University Children's Hospital Basel (UKBB), University of Basel, Spitalstrasse 33, Basel 4031, Switzerland.
⁵ Neuromuscular Center Zurich, Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Lenggstrasse 30, Zürich 8008, Switzerland.
⁶ Division of Neuropediatrics, Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 15, Bern 3010, Switzerland; Division of Neuropediatrics and Developmental Medicine, University Children's Hospital Basel (UKBB), University of Basel, Spitalstrasse 33, Basel 4031, Switzerland.
⁷ Pediatric neurology and Neurorehabilitation Unit, Lausanne University Hospital, Av. Pierre Decker 5, Lausanne 1011, Switzerland.
⁸ Institute of Social and Preventive Medicine, University of Bern, Mittelstrasse 43, Bern 3012, Switzerland.
⁹ Neuromuscular Diseases Unit/ALS Clinic, Cantonal Hospital St. Gallen, Rorschacher Str. 95/Haus 33, 9007 St. Gallen, Switzerland.
¹⁰ Neuropediatrics Unit, Paediatric Institute of Southern Switzerland, EOC, Via Ospedale 12, Bellinzona 6500, Switzerland.
¹¹ Department of Neurology, Neurocenter of Southern Switzerland EOC, Via Tesserete 46, Lugano 6900, Switzerland; Faculty of Biomedical Sciences, Università della Svizzera Italiana, Via la Santa 1, Lugano 6900, Switzerland.
¹² Centre for Neuromuscular Diseases, Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Rosenbühlgasse 25, Bern 3010, Switzerland.
¹³ Department of Neurology, University Hospital Zurich, Frauenklinikstrasse 26, Zürich 8091, Switzerland.
¹⁴ Sleep Disorders Centre and Ventilation Unit, Department of Pulmonology, University Hospital Zurich and University of Zurich, Rämistrasse 100, Zürich 8091, Switzerland.

PMID: 40451126
DOI: 10.1016/j.clineuro.2025.108983

Free article

Observational Study

Real-world data on the effect of long-term treatment with nusinersen over > 4 years in a cohort of Swiss patients with spinal muscular atrophy

Anne Tscherter et al. Clin Neurol Neurosurg. 2025 Aug.

Free article

. 2025 Aug:255:108983.

doi: 10.1016/j.clineuro.2025.108983. Epub 2025 May 26.

Authors

Affiliations

¹ Institute of Social and Preventive Medicine, University of Bern, Mittelstrasse 43, Bern 3012, Switzerland. Electronic address: anne.tscherter@unibe.ch.
² Division of Neuropediatrics, Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 15, Bern 3010, Switzerland.
³ Paediatric Neurology, Children's Hospital of Eastern Switzerland, Claudiusstrasse 6, 9000 St. Gallen, Switzerland; Medical Faculty, University of Basel, Klingelbergstrasse 61, Basel 4056, Switzerland.
⁴ Division of Neuropediatrics and Developmental Medicine, University Children's Hospital Basel (UKBB), University of Basel, Spitalstrasse 33, Basel 4031, Switzerland.
⁵ Neuromuscular Center Zurich, Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Lenggstrasse 30, Zürich 8008, Switzerland.
⁶ Division of Neuropediatrics, Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 15, Bern 3010, Switzerland; Division of Neuropediatrics and Developmental Medicine, University Children's Hospital Basel (UKBB), University of Basel, Spitalstrasse 33, Basel 4031, Switzerland.
⁷ Pediatric neurology and Neurorehabilitation Unit, Lausanne University Hospital, Av. Pierre Decker 5, Lausanne 1011, Switzerland.
⁸ Institute of Social and Preventive Medicine, University of Bern, Mittelstrasse 43, Bern 3012, Switzerland.
⁹ Neuromuscular Diseases Unit/ALS Clinic, Cantonal Hospital St. Gallen, Rorschacher Str. 95/Haus 33, 9007 St. Gallen, Switzerland.
¹⁰ Neuropediatrics Unit, Paediatric Institute of Southern Switzerland, EOC, Via Ospedale 12, Bellinzona 6500, Switzerland.
¹¹ Department of Neurology, Neurocenter of Southern Switzerland EOC, Via Tesserete 46, Lugano 6900, Switzerland; Faculty of Biomedical Sciences, Università della Svizzera Italiana, Via la Santa 1, Lugano 6900, Switzerland.
¹² Centre for Neuromuscular Diseases, Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Rosenbühlgasse 25, Bern 3010, Switzerland.
¹³ Department of Neurology, University Hospital Zurich, Frauenklinikstrasse 26, Zürich 8091, Switzerland.
¹⁴ Sleep Disorders Centre and Ventilation Unit, Department of Pulmonology, University Hospital Zurich and University of Zurich, Rämistrasse 100, Zürich 8091, Switzerland.

PMID: 40451126
DOI: 10.1016/j.clineuro.2025.108983

Abstract

Introduction: Current disease-modifying treatments for spinal muscular atrophy (SMA) have been shown to significantly improve the course of the disease, but data on long-term real-world outcomes remain scarce.

Methods: This prospective multicentre, observational study investigated 28 patients treated with nusinersen for 4.1-6.2 years. Motor function was assessed with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND), Hammersmith Functional Motor Scale (Expanded) (HFMS/E) and the Revised Upper Limb Module (RULM). Patient global impression of improvement scale, respiratory and nutritional support were assessed.

Results: Eight patients were 0-2.5 years old at treatment start and median gain of motor scores was 31.5 points in the CHOP-INTEND and 10 points in the HFMS/E. Three patients started part-time non-invasive ventilation and/or nutritional support during observation period. Fourteen patients were 3.5-16 years old and showed a median gain of 1 point in the HFMS/E. Four patients required non-invasive ventilation and/or nutritional support at treatment start, and three started support during observation period. Six patients were aged 16-45 years old and showed a median gain of 3.5 points in the HFMS/E. None needed chronic respiratory or nutritional support. After one year, 84 %, and after 4 years of treatment, 54 % of patients felt their condition had improved in the last 6 months.

Conclusion: Our data confirm sustained gains of motor function in early-treated patients and disease stabilisation in patients in the chronic phase under nusinersen treatment.

Keywords: Nusinersen; Real-world data; Spinal muscular atrophy; Spinraza; Swiss-Reg-NMD; Treatment efficacy.

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Conflict of interest statement

Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Swiss-Reg-NMD reports financial support was provided by Biogen Switzerland AG. Swiss-Reg-NMD reports financial support was provided by PTC Therapeutics Switzerland. Swiss-Reg-NMD reports financial support was provided by Sarepta International. Swiss-Reg-NMD reports financial support was provided by Pfizer. Swiss-Reg-NMD reports financial support was provided by Roche. Swiss-Reg-NMD reports financial support was provided by Novartis Gene Therapies Inc. A Klein, D Jacquier, GM Stettner reports a relationship with AveXis Switzerland GmbH that includes: consulting or advisory and speaking and lecture fees. A Klein reports a relationship with Sarepta International that includes: consulting or advisory and speaking and lecture fees. A Klein reports a relationship with Santhera Pharmaceuticals Schweiz AG that includes: consulting or advisory and speaking and lecture fees. A Klein reports a relationship with PTC Therapeutics Inc that includes: consulting or advisory and speaking and lecture fees. A Klein, D Jacquier, GM Stettner reports a relationship with Pfizer that includes: consulting or advisory and speaking and lecture fees. A Klein, D Jacquier, PJ Broser, C Enzmann, BC Henzi, O Scheidegger, GM Stettner, C Neuwirth, P Ripellino reports a relationship with Biogen that includes: consulting or advisory and speaking and lecture fees. A Klein, D Jacquier, PJ Broser, C Enzmann, GM Stettner reports a relationship with Novartis Gene Therapies Inc that includes: consulting or advisory and speaking and lecture fees. A Klein, D Jacquier, PJ Broser, C Enzmann, O Scheidegger, GM Stettner, C Neuwirth, P Ripellino reports a relationship with Roche Pharma (Schweiz) AG that includes: consulting or advisory and speaking and lecture fees. C Neuwirth reports a relationship with Mitsubishi Tanabe that includes: consulting or advisory and speaking and lecture fees. C Neuwirth reports a relationship with Sanofi Genzyme that includes: consulting or advisory and speaking and lecture fees. C Neuwirth, B Schreiner, P Ripellino reports a relationship with Alexion that includes: consulting or advisory and speaking and lecture fees. C Neuwirth, B Schreiner, P Ripellino reports a relationship with Argenx that includes: consulting or advisory and speaking and lecture fees. R Ripellino reports a relationship with UCB Pharma SA that includes: consulting or advisory. A. Klein, D. Jacquier, G.M. Stettner, P. Ripellino, B. Schreiner, E.I. Schwarz and O. Scheidegger are members of the steering board of the Swiss-Reg-NMD A.M. Mathis and A. Tscherter are members of the executive office of the Swiss-Reg-NMD. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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Real-world data on the effect of long-term treatment with nusinersen over > 4 years in a cohort of Swiss patients with spinal muscular atrophy

Affiliations

Real-world data on the effect of long-term treatment with nusinersen over > 4 years in a cohort of Swiss patients with spinal muscular atrophy

Authors

Affiliations

Abstract

Conflict of interest statement

Publication types

MeSH terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Research Materials