127P UK real-world longitudinal data collection and analysis in adult SMA: the Adult SMA REACH Data collection study

Abstract

Recent therapeutic developments have led to the approval of three Spinal Muscular Atrophy (SMA) treatments by the European Medicines Agency. This approval highlighted the urgent need to collect data to gain a better understanding in the impact of new drugs on natural history of the disease in the UK. Currently, in the UK, only gene therapy (Zolgensma) is approved, with Nusinersen and Risdiplam having conditional approval only available for patients via Managed Access Agreement. The Adult SMA Reach Real-World Data Collection Study, conducted across 19 sites in the UK, collects patients’ clinical data and functional outcome measures generated during routine clinical assessments. For treated patients clinical data is collected every 6 months and for non-treated patients every 12 months. The project aims to provide an overview of the disease progression for treated and non-treated patients. The collection of data contributes towards the final approval of the two drug treatments, but also to academic research with broader objectives. Adult SMA project has collected data from 417 patients so far. The project analyses data from 373 patients consented to academic research, comprising 1433 visits, on 17th April 2024. The cohort used for the analyses comprises different SMA types: Type 1 (n=4), 2 (n=168), 3 (n=189) and 4 (n=1). Currently the UK Adult population exhibits delay in treatment initiation for SMA type 2 and 3 patients from symptom onset and diagnosis. SMA Type 2 patients have an average delay of 26 years at treatment initiation from diagnosis. Similarly, for SMA Type 3 patients that is 24 years delay in treatment initiation from diagnosis. The mean age at time of treatment initiation for the whole adult population is 34.8 years in the UK. 39.1% of adult SMA patients (n=146) have experienced ventilatory support during the study period, with 21 patients subsequently discontinuing this intervention. 141 patients were treated only non-invasively, 4 patients were treated non-invasively and invasively at any point, and 1 patient had been treated only invasively. As expected, symptom onset age exhibits a correlation with SMA type, with Type 3 patients demonstrating later onset. The distribution by functional type at baseline is non-sitters 37% (n=105), sitters 43% (n=123) and walkers 19%(n=55). The present analysis comprised 254 Risdiplam, 101 Nusinersen and 18 non-treated patients. These findings, and further comprehensive analysis of the UK Adult SMA dataset, provide valuable insights into SMA real-world data, disease progression and treatment-driven disease progression. The collected data contributes to optimising patient care and advancing SMA research.