Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen.

Previous natural history studies suggest that type II SMA patients remain stable over one year but show some progression over two years. Since nusinersen approval, there has been increasing attention to identify more specific age-related changes. The aim of the study was to establish 12-month changes in a cohort of pediatric type II SMA treated with nusinersen and to establish possible patterns of treatment effect in relation to different variables such as age, baseline value and SMN2 copy number. The Hammersmith Functional Motor Scale Expanded and the Revised Upper Limb Module were performed at T0 and 12 months after treatment (T12). Data in treated patients were compared to available data in untreated patients collected by the same evaluators.Seventy-seven patients of age between 2.64 and 17.88 years (mean:7.47, SD:3.79) were included. On t-test there was an improvement, with increased mean scores between T0 and T12 on both scales (p < 0.001). Using multivariate linear regression analysis, age and baseline scores were predictive of changes on both scales (p < 0.05) while SMN2 copy number was not. Differences were also found between study cohort and untreated data on both scales (p < 0.001). At 12 months, an increase in scores was observed in all the age subgroups at variance with natural history data. Our real-world data confirm the treatment effect of nusinersen in pediatric type II SMA patients and that the data interpretation should take into account different variables. These data confirm and expand the ones already reported in the Cherish study.

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Declaration of Competing Interest GC, RDS, JM, AMG, SDY, MP, SM, ADA, BTD, EB, VAS, JD, FM, DCDV, RF, CB, EM reports personal fees BIOGEN S.R.L. outside the submitted work; GC, MCP, RDS, JM, AMG, SDY, MS, BTD, EB, JD, FM, DCDV, RF, CB, EM reports personal fees ROCHE outside the submitted work; GC reports personal fees GENESIS PHARMA and Biologix outside the submitted work; GC, RDS, AMG, MP, SM, BTD, EB, VAS, JD, FM, DCDV, RF, CB, EM reports personal fees AVEXIS outside the submitted work; AP, SDY, reports personal fees SMA FOUNDATION outside the submitted work; SDY reports personal fees SCHOLAR ROCK outside the submitted work; ADA, JD, RF reports personal fees NOVARTIS outside the submitted work; SL, SC, LA, AF, FS, PT, MC, TD, have nothing to disclose.