{"id":2798,"date":"2022-10-11T17:23:00","date_gmt":"2022-10-11T15:23:00","guid":{"rendered":"https:\/\/www.institut-myologie.org\/imotion\/?p=2798"},"modified":"2022-11-08T17:45:06","modified_gmt":"2022-11-08T15:45:06","slug":"the-inceptus-study-confirms-the-frequency-of-liver-damage-in-x-linked-myotubular-myopathy","status":"publish","type":"post","link":"https:\/\/www.institut-myologie.org\/imotion\/2022\/10\/11\/the-inceptus-study-confirms-the-frequency-of-liver-damage-in-x-linked-myotubular-myopathy\/?lang=en","title":{"rendered":"The INCEPTUS study confirms the frequency of liver damage in X-linked myotubular myopathy"},"content":{"rendered":"\n<p>The international INCEPTUS study, a natural history study prior to the ASPIRO gene therapy trial to which I-Motion contributed, involved 34 children under 4 years of age with X-linked myotubular myopathy on respiratory support.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>During a median follow-up of 13 months (from 5 months to more than 2.5 years), there were three deaths (from inhalation pneumonitis, cardiorespiratory failure, and hepatic hemorrhage with peliosis) and 61 disease-related \u201cserious events\u201d in 20 participants, of which 52 were respiratory in 18 participants;<\/li><li>80% of participants had ventilatory support more than 16 hours\/day (with a mean age of tracheostomy of 3.5 months) and 20% from 6 to 16 hours\/day;<\/li><li>97% had a gastrostomy;<\/li><li>91% had liver damage (including eight before inclusion): during the study, 29 had at least one elevation of transaminases and 12 had an elevation of bilirubin; the liver ultrasound was not normal in nine cases;<\/li><li>only seven participants could sit unsupported for more than 30 seconds (including one who later lost this ability); CHOP-INTEND scores ranged from 19 to 51.<\/li><li>Respiratory and motor parameters remained stable throughout the study.<\/li><\/ul>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\"><p><\/p><p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35694931\/\" target=\"_blank\" rel=\"noreferrer noopener\">INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. Dowling JJ, M\u00fcller-Felber W, Smith BK et al.&nbsp;J Neuromuscul Dis. 2022;9(4):503-516.<\/a><\/p><\/blockquote>\n","protected":false},"excerpt":{"rendered":"<p>The international INCEPTUS study, a natural history study prior to the ASPIRO gene therapy trial to which I-Motion contributed, involved 34 children under 4 years of age with X-linked myotubular myopathy on respiratory support. During a median follow-up of 13 months (from 5 months to more than 2.5 years), there were three deaths (from inhalation &hellip; <a href=\"https:\/\/www.institut-myologie.org\/imotion\/2022\/10\/11\/the-inceptus-study-confirms-the-frequency-of-liver-damage-in-x-linked-myotubular-myopathy\/?lang=en\">Continued<\/a><\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[15,3],"tags":[],"class_list":["post-2798","post","type-post","status-publish","format-standard","hentry","category-clinical-news","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>The INCEPTUS study confirms the frequency of liver damage in X-linked myotubular myopathy - I-Motion<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.institut-myologie.org\/imotion\/2022\/10\/11\/the-inceptus-study-confirms-the-frequency-of-liver-damage-in-x-linked-myotubular-myopathy\/?lang=en\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"The INCEPTUS study confirms the frequency of liver damage in X-linked myotubular myopathy - I-Motion\" \/>\n<meta property=\"og:description\" content=\"The international INCEPTUS study, a natural history study prior to the ASPIRO gene therapy trial to which I-Motion contributed, involved 34 children under 4 years of age with X-linked myotubular myopathy on respiratory support. 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