UK SMA patient registry: a 3-year patient-reported outcome measures study supporting the drug appraisal of Nusinersen and Risdiplam in spinal muscular atrophy

The UK SMA Patient Registry, established in 2008, is an online database into which individuals living with spinal muscular atrophy (SMA) in the United Kingdom and Ireland can enter information about their or their child's condition. In April 2022, the registry implemented a range of patient-reported outcome measures (PROMs) to contribute to Managed Access Agreement (MAA) data collection supporting the national regulatory review of recently emerged SMA treatments Nusinersen and Risdiplam. The registry simultaneously launched a 3-year study in collaboration with the national Adult SMA REACH and SMA REACH UK clinical networks, aiming to collect longitudinal PROMs data at 6-month intervals from 100 patients receiving each respective treatment during the MAA data collection period. As of June 2025, the registry received 3764 PROMs questionnaire submissions from 363 patients and caregivers. EQ-5D-5L data showed adult patients' reporting of moderate-to-extreme anxiety and depression did not directly correspond to their self-reported motor function ability. EQ VAS data showed SMA type 1, 2 and 3 patients reported similar average levels of overall health, regardless of motor function ability. The registry's collected PROMs data, aligned with SMA REACH clinical data, was submitted to national regulatory authorities in December 2023, with a further report submitted in May 2025. The study demonstrated the successes of implementing PROMs to support MAA data collection and marked an important milestone for patients' voices to contribute to SMA therapy evaluation through a patient registry. The study data emphasises that patient-reported data complements and offers an alternate perspective to clinical real-world data.