Background: Spinal muscular atrophy (SMA) is a rapidly progressive, debilitating disease characterized by motor neuron loss, muscle weakness, respiratory failure, and early death. While recent advancements in SMA treatment have dramatically improved prognosis, real-world data on treatment outcomes remain limited – particularly for patients who switch treatments.
Objective: RESTORE is a comprehensive registry of patients with SMA specifically designed to overcome the recognized limitations of existing single-product registries.
Approach: The RESTORE Registry is a prospective, multicenter, multinational, observational study that will assess outcomes (eg, survival, pulmonary, nutritional, and motor milestones, functional status, quality of life, adverse events) in patients with all types of SMA; inform patients, caregivers, regulatory agencies, and researchers on the effectiveness and short- and long-term safety of approved and emerging treatments; and collect information on healthcare resource utilization and caregiver burden. Participating centers may be involved in existing registries or recruited de novo. Data from patients enrolled in partnering registries and the onasemnogene abeparvovec-xioi (formerly AVXS-101) managed access program are transferred to the RESTORE database. Follow-up duration is 15 years from enrollment or until death.
Results: As of 14 October 2019, 52 patients – including some who received onasemnogene abeparvovec subsequent to other available therapies – have been enrolled across 19 active sites in the United States. The RESTORE Registry is rapidly expanding globally, with 48 sites in start-up.
Conclusion: RESTORE will provide extended assessments of interventions and outcomes in patients with SMA, enhancing our understanding of disease course on and off therapy.