Neuropediatrics 2024; 55(S 01): S1-S25
DOI: 10.1055/s-0044-1791925
Neuromuskuläre Erkrankungen

Real-World Data on the Effect of Long-Term Treatment with Nusinersen Over >4 Years in a Cohort of Swiss Patients with SMA

A. Tscherter
1   Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
,
P. J. Broser
2   Paediatric Neurology, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland
,
C. Enzmann
3   Division of Neuropediatrics and Developmental Medicine, University Children’s Hospital Basel (UKBB), Basel, Switzerland
,
T. Hundsberger
4   Department of Neurology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland
,
D. Jacquier
5   Pediatric Neurology and Neurorehabilitation Unit, Lausanne University Hospital, Lausanne, Switzerland
,
A. M. Mathis
1   Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
,
C. Neuwirth
6   Neuromuscular Diseases Unit/ALS Clinic, Cantonal Hospital St. Gallen, St. Gallen, Switzerland
,
G. P. Ramelli
7   Neuropediatric Unit, Pediatric Institute of Southern Switzerland, Ospedale San Giovanni, Bellinzona, Switzerland
,
P. Ripellino
8   Department of Neurology, Neurocenter of Southern Switzerland EOC, Lugano, Switzerland
,
O. Scheidegger
10   Department of Neurology, Centre for Neuromuscular Diseases, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
,
B. Schreiner
11   Department of Neurology, University Hospital Zurich, Zürich, Switzerland
,
E. I. Schwarz
12   Department of Respiratory Medicine, Sleep Disorders Centre and Neuromuscular Centre, University Hospital of Zurich, Zürich, Switzerland
,
G. M. Stettner
13   Department of Pediatric Neurology, Neuromuscular Center Zurich, University Children’s Hospital Zurich, University of Zurich, Zürich, Switzerland
,
A. Klein
14   Department of Pediatrics, Division of Neuropediatrics, Development and Rehabilitation, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
,
on behalf of the Swiss-Reg-NMD Group
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Background/Purpose: Current therapies for patients with SMA lead to disease-modifying results, but data on long-term real-world outcomes remain scarce. We present outcome data collected by the Swiss Registry for Neuromuscular Disorders of patients treated at least 4 years with nusinersen.

Methods: This multicenter, observational study included 28 patients. At treatment initiation, patients were 0.2 to 44.6 years old and treatment duration ranged from 4.1 to 6.3 years (7 nonsitters; 14 sitters; 7 walkers). We assessed motor function with CHOP-INTEND, HFMS/E, RULM, and 6MWT depending on the age and condition of the patients every 4 months.

Results: We report on three age groups. (1) Eight patients were aged 0 to 2.5 years at treatment start. During the observation period, all scored higher in at least two assessment types over time and three patients needed to start noninvasive ventilation during sleep and/or nutritional support. (2) Fourteen patients were aged 3 to 16 years at treatment start. Over time, two patients achieved lower and two similar scores in all assessment types performed, and 10 higher motor scores in at least one assessment. Four patients required noninvasive ventilation and/or nutritional support already at treatment start, and three started during the observation period. (3) Six patients were aged >16 years at treatment start. Over time, five patients achieved similar or higher motor scores. None of the six patients needed chronic ventilation or nutritional support during the whole observation period. After 1 year of treatment, 84% of all patients felt that their condition had improved in the last 6 months (PGI-I scale). After 4 years of treatment, 54% still felt that their condition had improved in the last 6 months while worsening was reported in <5% of data collections.

Conclusion: Our data confirm sustained motor gains in early treated patients and disease stabilization in adults under nusinersen treatment. Additionally, we observe a continuing benefit perceived by the patients themselves.



Publication History

Article published online:
08 October 2024

Georg Thieme Verlag KG
Stuttgart · New York