184P The integration of PROMs and clinician reported data: a holistic approach to characterise disease burden and treatment impact.

The UK SMA Patient Registry collects patient-reported outcome measures (PROMs) from individuals living with spinal muscular atrophy (SMA) in the UK and Ireland. In 2022, PROMs collection was introduced in the registry to supplement clinical and genetic data held therein. PROMs capture the perspectives of adults and caregivers of young people living with SMA about the impact of their condition and treatment, their quality of life and activities of daily living. Importance of the patient voice is increasingly recognised and valued. Currently, SMA therapies Nusinersen and Risdiplam are available in the UK via managed access agreements (MAAs). The collection of clinical and patient-reported data will inform review of treatment impact by UK regulatory authorities. In collaboration with clinical networks Adult SMA REACH and SMA REACH UK, the registry aims to collect PROMs data of 100 Nusinersen and 100 Risdiplam patients. PROMs will be aligned with Adult SMA REACH and SMA REACH clinical data, anonymised, analysed and submitted to regulatory authorities for consideration as part of the treatment MAAs. Registration in the UK SMA Patient Registry is patient-initiated through a secure online portal. Patients are invited to complete questionnaires about their condition and PROMs: EQ-5D; Patient Global Impression of Change; SMA Independence Scale (SMAIS-ULM); and a free-text box. Enabled through patient consent and data sharing agreements, patient-level PROMs data is shared with each patient's SMA REACH clinic and with the SMA REACH coordination teams. In clinic, the data informs patient care. At project coordination level, PROMs are aligned with clinical data collected by SMA REACH. At the time of abstract submission, the registry has 642 participants: 443 adults (16+years); 199 paediatric (<16years). PROMs have been completed by 205 adults and by the caregivers of 80 paediatric patients. The fraction of PROMs able to be aligned with Adult SMA REACH and SMA REACH clinical data is growing and will be presented. The UK SMA Patient Registry represents a well-defined cohort of individuals with SMA and is a valuable tool for the collection of SMA real-world data reported by treated and treatment-naïve patients. Expansion of the registry to collect PROMs supports UK SMA data collection and supplements Adult SMA REACH and SMA REACH clinical data, assisting in therapy evaluation by regulatory authorities. [ABSTRACT FROM AUTHOR]