OBJECTIVES: Spinal muscular atrophy type 1 (SMA1) is a rapidly progressing, debilitating disease, caused by biallelic survival motor neuron 1 (SMN1) gene deletion/mutation, leading to subsequent motor neuron loss, muscle weakness, respiratory failure, and early death. Dramatic changes in SMA treatment landscape have altered the outlook of this disease. The RESTORE Registry was created to assess outcomes of patients receiving SMA treatment, provide information on the effectiveness and long-term safety of new/emerging treatments, document patient survival, and collect information on healthcare resource utilization, caregiver burden, patient functional status, and quality of life.

METHODS: The RESTORE Registry is a prospective, multicenter, multinational, observational study. Participating centers include those involved in existing and evolving SMA registries (e.g., iSMAC, TreatNMD, NeuroNEXT, Cure SMA) and SMA treatment centers recruited de novo. Data from existing patients enrolled in partnering registries are transferred to the RESTORE Registry database. Data for newly diagnosed patients are added as they enroll. Patients with SMA treated in the onasemnogene abeparvovec (AVXS-101) managed access program are also being enrolled in the registry. Follow-up is 15 years from enrollment or until death, whichever is earlier. Assessments include SMA history and treatment, pulmonary, nutritional, and motor milestones, healthcare resource utilization, work productivity and activity impairment, adverse events, quality of life, and survival.

RESULTS: The RESTORE Registry has been established and as of February 27, 2019, 10 patients have been enrolled. Registry sites are planned in Latin America, Europe, and Japan.

CONCLUSIONS: The RESTORE Registry has begun recruiting SMA patients, allowing short- and long-term patient outcomes assessment and extended evaluation of emerging SMA treatments, including gene therapy.