The restore registry: A resource for measuring and improving spinal muscular atrophy outcomes

Abstract

Spinal muscular atrophy (SMA) is a rapidly progressing neurologic disease, the genetic root cause of which is biallelic survival motor neuron 1 (SMN1) gene deletion/mutation. Dramatic changes in the SMA treatment landscape have altered the disease outlook. The RESTORE Registry was created to assess outcomes of patients receiving SMA treatment, provide information on efficacy and long-term safety of new/emerging treatments, document patient survival, and collect information on healthcare resource utilization (HCRU), caregiver burden, patient functional status, and quality of life. 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, SMArtCARE) 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. Follow-up is 15 years from enrollment or until death, whichever is earlier. Assessments include SMA history and treatment, pulmonary, nutritional, and motor milestones, HCRU, work productivity and activity impairment, adverse events, quality of life, and survival. The RESTORE Registry has been established. As of April 2019, 15 sites have been activated in the US and 12 SMA patients have been enrolled. Registry sites are planned in Latin America, Europe, Turkey, the Middle East, Japan, among other regions, as part of its global expansion. 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.