Abstract
Background:Dramatic improvements in spinal muscular atrophy (SMA) treatment have changed the prognosis for patients with this disease, leading to important new questions. Gathering representative, real-world data about the long-term efficacy and safety of emerging SMA interventions is essential to document their impact on patients and caregivers.Objectives:This registry will assess outcomes in patients with genetically confirmed SMA and provide information on the effectiveness and long-term safety of approved and emerging treatments.Design and Methods:RESTORE is a prospective, multicenter, multinational observational registry. Patients will be managed according to usual clinical practice. Both newly recruitedSMAtreatment centers and sites involved in existing SMA registries, including iSMAC, Treat-NMD, French SMA Assistance Publique- Hôpitaux de Paris (AP-HP), Cure-SMA, SMArtCARE, will be eligible to participate; de novo; sites already participating in another registry may be included via consortium agreements. Data from patients enrolled in partnering registries will be shared with the RESTORE Registry and data for newly diagnosed patients will be added upon enrollment. Patients will be enrolled over a 5-year period and followed for 15 years or until death. Assessments will include SMA history and treatment, pulmonary, nutritional, and motor milestones, healthcare resource utilization, work productivity, activity impairment, adverse events, quality of life, caregiver burden, and survival.Status:Recruitment started in September 2018. As of January 3, 2020, 64 patients were enrolled at 25 participating sites.Conclusions:The RESTORE Registry has begun recruiting recently diagnosed patients with genetically confirmed SMA, enabling assessment of both short- and long-term patient outcomes.
Highlights
Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by loss of or pathogenic variants in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons
RESTORE is a prospective, multicenter, multinational, non-interventional observational study governed by an international steering committee of SMA experts who are committed to ensuring the quality of these data and to sharing findings through publication and presentation of Registry data
To permit evaluation of patients who receive gene therapy with onasemnogene abeparvovec, this Registry will recruit patients who were previously treated in a formal clinical study or EAP/MAP
Summary
Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by loss of or pathogenic variants in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is the leading cause of infant mortality among genetic diseases [1]. SMN2 is a paralogous gene that is present in all patients and is considered a phenotype modifier. Dramatic improvements in spinal muscular atrophy (SMA) treatment have changed the prognosis for patients with this disease, leading to important new questions. Objectives: This registry will assess outcomes in patients with genetically confirmed SMA and provide information on the effectiveness and long-term safety of approved and emerging treatments. R.S. Finkel et al / RESTORE Registry for Spinal Muscular Atrophy
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