{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11(2)"],"submitter":["Servais L"],"pubmed_abstract":["<h4>Background</h4>Long-term, real-world effectiveness and safety data of disease-modifying treatments for spinal muscular atrophy (SMA) are important for assessing outcomes and providing information for a larger number and broader range of SMA patients than included in clinical trials.<h4>Objective</h4>We sought to describe patients with SMA treated with onasemnogene abeparvovec monotherapy in the real-world setting.<h4>Methods</h4>RESTORE is a prospective, multicenter, multinational, observational registry that captures data from a variety of sources.<h4>Results</h4>Recruitment started in September 2018. As of May 23, 2022, data were available for 168 patients treated with onasemnogene abeparvovec monotherapy. Median (IQR) age at initial SMA diagnosis was 1 (0-6) month and at onasemnogen"],"journal":["Journal of neuromuscular diseases"],"pagination":["425-442"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10977451"],"repository":["biostudies-literature"],"pubmed_title":["Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry."],"pmcid":["PMC10977451"],"pubmed_authors":["Mercuri E","Proud CM","Day JW","Faulkner E","Saito K","Raju D","LaMarca N","De Vivo DC","Anderson FA","Benguerba KM","Muntoni F","Finkel RS","Tizzano EF","Shieh PB","Servais L","Sun R","Desguerre I","Kirschner J","Quijano-Roy S"],"additional_accession":[]},"is_claimable":false,"name":"Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.","description":"<h4>Background</h4>Long-term, real-world effectiveness and safety data of disease-modifying treatments for spinal muscular atrophy (SMA) are important for assessing outcomes and providing information for a larger number and broader range of SMA patients than included in clinical trials.<h4>Objective</h4>We sought to describe patients with SMA treated with onasemnogene abeparvovec monotherapy in the real-world setting.<h4>Methods</h4>RESTORE is a prospective, multicenter, multinational, observational registry that captures data from a variety of sources.<h4>Results</h4>Recruitment started in September 2018. As of May 23, 2022, data were available for 168 patients treated with onasemnogene abeparvovec monotherapy. Median (IQR) age at initial SMA diagnosis was 1 (0-6) month and at onasemnogen","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024","modification":"2026-07-16T04:12:35.977Z","creation":"2025-04-05T23:17:08.569Z"},"accession":"S-EPMC10977451","cross_references":{"pubmed":["38250783"],"doi":["10.3233/JND-230122"]}}