Tscherter, AnneAnneTscherter0000-0002-6972-482XSteiner, LeonieLeonieSteinerBroser, Philip JulianPhilip JulianBroserEnzmann, CorneliaCorneliaEnzmannGaliart, EleaEleaGaliartHenzi, Bettina CorneliaBettina CorneliaHenziJacquier, DavidDavidJacquierMathis, Andrea MariaAndrea MariaMathisNeuwirth, ChristophChristophNeuwirthRamelli, Gian PaoloGian PaoloRamelliRipellino, PaoloPaoloRipellinoScheidegger, OlivierOlivierScheidegger0000-0003-3925-5142Schreiner, BettinaBettinaSchreinerSchwarz, Esther IreneEsther IreneSchwarzStettner, Georg MartinGeorg MartinStettnerKlein, AndreaAndreaKlein2025-07-212025-07-212025-05-26https://boris-portal.unibe.ch/handle/20.500.12422/211605Tscherter and Steiner share first authorship (equal contribution).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.enNusinersenReal-world dataSpinal muscular atrophySpinrazaSwiss-Reg-NMDTreatment efficacy600 - Technology::610 - Medicine & healtharticle10.48620/896414045112610.1016/j.clineuro.2025.108983