VP.17 Long-term effect of nusinersen treatment on motor, respiratory and bulbar function in children with SMA type 1 - a 3-year SMArtCARE registry study

Abstract

Three different drugs have been approved by EMA and FDA for the treatment of patients with spinal muscular atrophy (SMA) in the past few years. In contrast to clinical trial data with restricted patient populations and short observation periods, SMArtCARE collects longitudinal real-world data on a broad spectrum of SMA patients as a disease-specific registry. For this data analysis, all patients under treatment with nusinersen were identified within the SMArtCARE registry. Inclusion criterion for the data analysis was that patients never had the ability to sit independently before start of treatment. Changes in motor function were evaluated with the CHOP INTEND score and motor milestones considering WHO criteria. Further, data on the need for ventilator support, tube feeding, and mortality were analyzed. In total, 143 children with SMA type 1 were included in the data analysis with a follow-up period of up to 38 months. Major improvements were observed in motor function, especially in children younger than two years of age at start of treatment. 24.5% of children gained the ability to sit independently. The need for non-invasive ventilator support and tube feeding increased despite treatment with nusinersen. Our findings confirm the increasing real-world evidence that treatment with nusinersen has a dramatic influence on disease progression in patients with SMA type 1 - especially regarding motor function and survival. Bulbar and respiratory function needs to be closely monitored, as these functions do not improve equivalent to motor function.