599PThe integration of PROMs and real-world data: a holistic approach to characterise disease burden and treatment impact in spinal muscular atrophy

The UK SMA Patient Registry, established in 2008, represents a well-defined cohort of individuals living with Spinal muscular atrophy (SMA) in the UK and Ireland. The registry has 674 participants: 468 adults (≥16 years); 206 paediatric (<16 years). The registry is a valuable tool for the collection of SMA patient-reported outcomes (PROs) through patient-reported outcome measures (PROMs). PROMs capture the perspectives of people living with SMA about their quality of life and the impact of their condition. In April 2022, the registry implemented the following PROMs: - EQ-5D-5L - EQ-3D-Y - Patient Global Impression of Severity (PGI-S) - Patient Global Impression of Improvement (PGI-I) - SMA Independence Scale – Upper Limb Module (SMAIS-ULM) - Free-text box The SMAIS-ULM is a PROM specifically developed for SMA, while EQ-5D/3D PROMs are often used by regulators. The PGI scales are mandated by the TREAT-NMD SMA Expanded Core Dataset and so are used by many national SMA patient registries. Since their implementation, PROMs questionnaires have been completed by 256 adults and by the caregivers of 112 paediatric patients in the registry. In total, the registry has collected 3541 PROs. Correlations between PROs and patients’ SMA type, functional status, and treatment status will be presented. Notably, PROs from patients with lower-functional states on average report a higher quality of life than patients with higher-functional states. In collaboration with the national SMA REACH clinical networks in the UK, PROMs data collected from patients receiving SMA treatment has been aligned with SMA REACH clinical data and submitted to UK regulatory authorities for consideration as part of the treatment reviews. The registry’s presented data proves that PROMs add value to clinician-reported outcomes and offer a different perspective, demonstrating that it is worth continuing the effort of collecting the patient voice.