{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T04:56:52Z","timestamp":1781067412121,"version":"3.54.1"},"reference-count":46,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T00:00:00Z","timestamp":1780963200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T00:00:00Z","timestamp":1780963200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100030831","name":"Novartis Japan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100030831","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>There are limited real\u2010world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one\u2010time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real\u2010world outcomes for OA in Japan.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We report interim, 5\u2010year results of Japanese post\u2010marketing surveillance of OA (part of the RESTORE registry: NCT04174157).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Eighty patients were registered and treated with OA (monotherapy: 30%; bridge or switch to OA: 54%). The median (min, max) age (months) was 3.0 (0, 18) at symptom onset and 10.0 (0, 24) at OA infusion. Forty patients each (50.0%) had two or three survival motor neuron 2 (\n                      <jats:italic>SMN2<\/jats:italic>\n                      ) gene copies. Ten patients were identified by newborn screening. Adverse events related to OA were reported in 98.8% (serious: 26.3%; no deaths). Adverse events of special interest occurred in 92.5%, including hepatotoxicity (90.0%), transient thrombocytopenia (62.5%), cardiac adverse events (33.8%), and thrombotic microangiopathy (5.0%). Event\u2010free survival at 3\u2009years since OA administration was 93.0%. There was one death from disease progression. Of 39 patients with two or more developmental milestones, 64.1% achieved new developmental milestones and 15.4% maintained their milestones. Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores increased by \u2265\u20094 points in 81.8% (54\/66).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>The safety profile of OA in Japanese patients with SMA mirrored that of earlier studies. In our real\u2010world observations, patients showed gains in or maintenance of motor milestones or motor function scores that were sustained over the observation period.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Trial Registration<\/jats:title>\n                    <jats:p>\n                      NCT04174157 (\n                      <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/clinicaltrials.gov\">ClinicalTrials.gov<\/jats:ext-link>\n                      )\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.70437","type":"journal-article","created":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T04:00:17Z","timestamp":1781064017000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Onasemnogene Abeparvovec in Patients With\n                    <scp>SMA<\/scp>\n                    : Interim Results of the\n                    <scp>RESTORE<\/scp>\n                    Registry in Japan"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2632-0873","authenticated-orcid":false,"given":"Kayoko","family":"Saito","sequence":"first","affiliation":[{"name":"Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamal","family":"Benguerba","sequence":"additional","affiliation":[{"name":"Novartis Pharma AG  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Tsuchida","sequence":"additional","affiliation":[{"name":"Clinical Development Novartis Pharma K.K.  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazushige","family":"Yazawa","sequence":"additional","affiliation":[{"name":"Clinical Development Novartis Pharma K.K.  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isao","family":"Tsumiyama","sequence":"additional","affiliation":[{"name":"Analytics Novartis Pharma K.K.  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiromitsu","family":"Kayama","sequence":"additional","affiliation":[{"name":"Medical Affairs Novartis Pharma K.K.  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra P.","family":"Reyna","sequence":"additional","affiliation":[{"name":"Novartis Gene Therapies Inc.  Bannockburn Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farid","family":"Khan","sequence":"additional","affiliation":[{"name":"Novartis Gene Therapies Inc.  Bannockburn Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9351-7054","authenticated-orcid":false,"given":"Richard S.","family":"Finkel","sequence":"additional","affiliation":[{"name":"Center for Experimental Neurotherapeutics St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,9]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25101"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2021.08.002"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns7030045"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/13696998.2024.2439734"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241511939"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591\u2010021\u201001483\u20107"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/s1474\u20104422(21)00001\u20106"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1706198"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2021.1272"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/s1474\u20104422(21)00251\u20109"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591\u2010022\u201001866\u20104"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591\u2010022\u201001867\u20103"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/arm92050032"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41434\u2010022\u201000341\u20106"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2022.04.006"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lanepe.2023.100817"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431\u2010024\u201005886\u20109"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.3390\/ph17030394"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2023.04.007"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lanepe.2024.101092"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.3233\/jnd\u2010190451"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.3233\/jnd\u2010230122"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51889"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.16309"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2025.105341"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23158289"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.002"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/s2352\u20104642(21)00100\u20100"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140\u20106736(16)31408\u20108"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.3233\/jnd\u2010221560"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000210268"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010024\u201003326\u20103"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2023.11.010"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2024.1475884"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2022.1031924"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.2174\/156652307782151434"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40264\u2010021\u201001107\u20106"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2020.11.001"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51519"},{"key":"e_1_2_11_41_1","unstructured":"Novartis Pharma K.K. Onasemnogene abeparvovec (Zolgensma) virus vector product. Package insert 7th edition May 2025 accessed October 1 2025 https:\/\/www.pro.novartis.com\/jp\u2010ja\/sites\/pro_novartis_com_jp\/files\/2025\u201005\/pi_zol_202505.pdf. [In Japanese]."},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2020\u20100729"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2020.11.054"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000200676"},{"key":"e_1_2_11_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2024.06.001"},{"key":"e_1_2_11_46_1","first-page":"167","article-title":"Newborn Screening for Spinal Muscular Atrophy, Current Status and Issues","volume":"55","author":"Saito K.","year":"2023","journal-title":"No to Hattatsu (Brain Dev.)"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.1177\/22143602251391258"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.70437","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/acn3.70437","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.70437","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T04:00:26Z","timestamp":1781064026000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.70437"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,9]]},"references-count":46,"alternative-id":["10.1002\/acn3.70437"],"URL":"https:\/\/doi.org\/10.1002\/acn3.70437","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,9]]},"assertion":[{"value":"2025-12-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"acn3.70437"}}