{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T17:31:05Z","timestamp":1786987865894,"version":"build-2736575974"},"reference-count":26,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T00:00:00Z","timestamp":1699920000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["thelancet.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["eBioMedicine"],"published-print":{"date-parts":[[2024,1]]},"DOI":"10.1016\/j.ebiom.2023.104894","type":"journal-article","created":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T05:03:13Z","timestamp":1702357393000},"page":"104894","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial"],"prefix":"10.1016","volume":"99","author":[{"given":"Michael W.","family":"Lawlor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Margeta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline A.","family":"Sewry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karra A.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perry B.","family":"Shieh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy L.","family":"Kuntz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara K.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J.","family":"Dowling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"M\u00fcller-Felber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten G.","family":"B\u00f6nnemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreea M.","family":"Seferian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Blaschek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Neuhaus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Reghan","family":"Foley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimah N.","family":"Saade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etsuko","family":"Tsuchiya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ummulwara R.","family":"Qasim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Beatka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariah J.","family":"Prom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Ott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Danielson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Krakau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suresh N.","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4872-1993","authenticated-orcid":false,"given":"Mark","family":"Vanden Avond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clive","family":"Wells","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Gordish-Dressman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8818-0568","authenticated-orcid":false,"given":"Alan H.","family":"Beggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward","family":"Conner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma S.","family":"James","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chanchal","family":"Sadhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weston","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan","family":"Sepulveda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatbardha","family":"Varfaj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suyash","family":"Prasad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1508-8717","authenticated-orcid":false,"given":"Salvador","family":"Rico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.ebiom.2023.104894_bib1","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1016\/S0960-8966(02)00153-0","article-title":"Genotype-phenotype correlations in X-linked myotubular myopathy","volume":"12","author":"McEntagart","year":"2002","journal-title":"Neuromuscul Disord"},{"issue":"13","key":"10.1016\/j.ebiom.2023.104894_bib2","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1212\/WNL.0000000000004415","article-title":"A\u00a0natural history study of X-linked myotubular myopathy","volume":"89","author":"Amburgey","year":"2017","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104894_bib3","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/mus.26018","article-title":"A\u00a0multicenter, retrospective medical record review of X-linked myotubular myopathy: the RECENSUS study","volume":"57","author":"Beggs","year":"2018","journal-title":"Muscle Nerve"},{"issue":"16","key":"10.1016\/j.ebiom.2023.104894_bib4","doi-asserted-by":"crossref","first-page":"e1852","DOI":"10.1212\/WNL.0000000000007319","article-title":"X-linked myotubular myopathy: a prospective international natural history study","volume":"92","author":"Annoussamy","year":"2019","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104894_bib5","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1136\/archdischild-2019-317910","article-title":"Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis","volume":"105","author":"Graham","year":"2020","journal-title":"Arch Dis Child"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104894_bib6","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1093\/jnen\/nlv020","article-title":"Skeletal muscle pathology in X-linked myotubular myopathy: review with cross-species comparisons","volume":"75","author":"Lawlor","year":"2016","journal-title":"J\u00a0Neuropathol Exp Neurol"},{"issue":"14","key":"10.1016\/j.ebiom.2023.104894_bib7","doi-asserted-by":"crossref","first-page":"2132","DOI":"10.1093\/hmg\/ddn112","article-title":"AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis","volume":"17","author":"Buj-Bello","year":"2008","journal-title":"Hum Mol Genet"},{"issue":"220","key":"10.1016\/j.ebiom.2023.104894_bib8","doi-asserted-by":"crossref","first-page":"220ra10","DOI":"10.1126\/scitranslmed.3007523","article-title":"Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy","volume":"6","author":"Childers","year":"2014","journal-title":"Sci Transl Med"},{"issue":"5","key":"10.1016\/j.ebiom.2023.104894_bib9","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1002\/mus.25658","article-title":"Long-term effects of systemic gene therapy in a canine model of myotubular myopathy","volume":"56","author":"Elverman","year":"2017","journal-title":"Muscle Nerve"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104894_bib10","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1016\/j.ymthe.2017.02.004","article-title":"Systemic AAV8-mediated gene therapy drives whole-body correction of myotubular myopathy in dogs","volume":"25","author":"Mack","year":"2017","journal-title":"Mol Ther"},{"key":"10.1016\/j.ebiom.2023.104894_bib11","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1016\/S1474-4422(23)00313-7","article-title":"Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial","volume":"22","author":"Shieh","year":"2023","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.ebiom.2023.104894_bib12","article-title":"LBP.13 ASPIRO gene replacement therapy trial with resamirigene bilparvovec in XLMTM: pathologic findings in three deceased study participants. [Poster presentation at the World Muscle Society (WMS) Virtual Congress 2021, September 20\u201324]","volume":"31","author":"Lawlor","year":"2021","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104894_bib13","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1182\/blood-2013-01-306647","article-title":"Immune responses to AAV vectors: overcoming barriers to successful gene therapy","volume":"122","author":"Mingozzi","year":"2013","journal-title":"Blood"},{"issue":"25","key":"10.1016\/j.ebiom.2023.104894_bib14","doi-asserted-by":"crossref","first-page":"2357","DOI":"10.1056\/NEJMoa1108046","article-title":"Adenovirus-associated virus vector-mediated gene transfer in hemophilia B","volume":"365","author":"Nathwani","year":"2011","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.ebiom.2023.104894_bib15","article-title":"Tissue triage and freezing for models of skeletal muscle disease","volume":"89","author":"Meng","year":"2014","journal-title":"J\u00a0Vis Exp"},{"key":"10.1016\/j.ebiom.2023.104894_bib16","series-title":"Histological and histochemical changes. Muscle biopsy: a practical approach","first-page":"46","author":"Dubowitz","year":"2021"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104894_bib17","doi-asserted-by":"crossref","first-page":"51","DOI":"10.5858\/arpa.2014-0453-OA","article-title":"Common data elements for muscle biopsy reporting","volume":"140","author":"Dastgir","year":"2016","journal-title":"Arch Pathol Lab Med"},{"issue":"18","key":"10.1016\/j.ebiom.2023.104894_bib18","first-page":"262","article-title":"Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy","volume":"3","author":"Goddard","year":"2015","journal-title":"Ann Transl Med"},{"issue":"3","key":"10.1016\/j.ebiom.2023.104894_bib19","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/j.ymthe.2020.01.004","article-title":"Muscle-directed delivery of an AAV1 vector leads to capsid-specific T cell exhaustion in nonhuman primates and humans","volume":"28","author":"Gernoux","year":"2020","journal-title":"Mol Ther"},{"key":"10.1016\/j.ebiom.2023.104894_bib20","doi-asserted-by":"crossref","first-page":"20660","DOI":"10.1016\/j.omtm.2021.02.003","article-title":"AAV8 locoregional delivery induces long-term expression of an immunogenic transgene in macaques despite persisting local inflammation","volume":"20","author":"Gernoux","year":"2021","journal-title":"Mol Ther Methods Clin Dev"},{"issue":"2","key":"10.1016\/j.ebiom.2023.104894_bib21","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.ajpath.2010.10.035","article-title":"Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice","volume":"178","author":"Lawlor","year":"2011","journal-title":"Am J Pathol"},{"key":"10.1016\/j.ebiom.2023.104894_bib22","first-page":"261","volume":"149","author":"Alfano","year":"2022","journal-title":"Pediatrics"},{"issue":"4","key":"10.1016\/j.ebiom.2023.104894_bib23","first-page":"503","article-title":"INCEPTUS natural history, run-in study for gene replacement clinical trial in X-linked myotubular myopathy","volume":"9","author":"Dowling","year":"2022","journal-title":"J\u00a0Neuromuscul Dis"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104894_bib24","first-page":"73","article-title":"Intrahepatic cholestasis is a clinically significant feature associated with natural history of X-linked myotubular myopathy (XLMTM): a case series and biopsy report","volume":"9","author":"Molera","year":"2022","journal-title":"J\u00a0Neuromuscul Dis"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104894_bib25","first-page":"79","article-title":"Diagnosing X-linked myotubular myopathy - a German 20-year follow up experience","volume":"8","author":"Gangfuss","year":"2021","journal-title":"J\u00a0Neuromuscul Dis"},{"issue":"1","key":"10.1016\/j.ebiom.2023.104894_bib26","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1186\/s13023-021-02055-1","article-title":"Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies","volume":"16","author":"D'Amico","year":"2021","journal-title":"Orphanet J Rare Dis"}],"container-title":["eBioMedicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352396423004607?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352396423004607?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T21:09:30Z","timestamp":1739480970000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352396423004607"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":26,"alternative-id":["S2352396423004607"],"URL":"https:\/\/doi.org\/10.1016\/j.ebiom.2023.104894","relation":{},"ISSN":["2352-3964"],"issn-type":[{"value":"2352-3964","type":"print"}],"subject":[],"published":{"date-parts":[[2024,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial","name":"articletitle","label":"Article Title"},{"value":"eBioMedicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ebiom.2023.104894","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"104894"}}