P.45 Adult SMA REACH: an integrated model to facilitate transition of data and longitudinal data collection of clinician and patient entered data

Abstract

Adult SMA REACH is a longitudinal observational study collecting clinical data and outcome measures for spinal muscular atrophy (SMA) patients aged ≥16 years with genetically confirmed 5q SMA. Recent advances in drug development have highlighted an urgent need to establish stronger clinical networks and data collection to monitor and gain a better understanding of the impact of new drugs. In collaboration with SMA Reach UK (paediatric network and data collection study) we work collaboratively using the same IT platform to harmonise data collection and the transition of patients from childhood to adulthood. There are currently three UK databases collecting data on SMA patients. SMA REACH UK led by GOSH: a paediatric SMA clinical network and data collection study already established and actively collecting both natural history and treatment-related data. Adult SMA REACH led by the JWMDRC: a recently established adult SMA clinical network and data collection study. The UK SMA Patient Registry led by the JWMDRC: is a long-established web-based patient registry that collects patient-reported data across all ages. The integration of the three UK SMA databases will advance our understanding of the impact of care and new therapies on the natural history of the disease and ensure continuity of data collection throughout transition. The inclusion of patient perception of the impact of the disease is ensured by integrating data directly reported by patients. The importance of the perspective and observation of patients with SMA and any response to treatment is increasingly recognised, and this study will link with the UK SMA Patient Registry to collect vital Patient Reported Outcome Measures (PROMs). In 2022, additional PROMs were included for those on treatment to better-inform healthcare providers of the impact & effectiveness of treatment on the natural disease course. The patient data collected from the registry will supplement SMA REACH clinical data in reports to UK regulatory authorities. Adult SMA REACH will support and facilitate the transition of paediatric SMA patients to adulthood to enable integrated and longitudinal analysis of clinical and patient-reported data which will provide real-world evidence to better understand the impact of new drugs on the natural history of SMA.