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

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.

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Declaration of Competing Interest This work was supported by a training fellowship of the Swiss Muscle Society to CT Rüsch. A. Klein served on advisory boards of Avexis, Novartis Gene Therapies, Roche and Biogen and received speakers honoraria from Roche and Biogen. D. Jacquier served on advisory boards of Avexis, Novartis Gene Therapies, Roche and Biogen and received speakers honoraria from Biogen. HH Jung served on advisory boards of Biogen and Roche. GM Stettner served on advisory boards of Avexis, Novartis Gene Therapies, Roche and Biogen. Ch. Neuwirth received honoraria for services and advisory board membership from Biogen USA, Biogen Switzerland, Roche, Mitsubishi Tanabe and Sanofi Genzyme. O. Hasselmann received honoraria by Avexis, Novartis Gene Therapies and Biogen following participation on their advisory boards. The Swiss-Reg-NMD receives unconditional from PTC Therapeutics lnternational, Sarepta International, Pfizer Switzerland and Roche Pharma Schweiz AG and research grants from Novartis Gene Therapies and Biogen. None of the funders was involved in the study design, data collection, analysis, interpretation of data or writing the article.