{"id":2806,"date":"2022-10-11T17:36:00","date_gmt":"2022-10-11T15:36:00","guid":{"rendered":"https:\/\/www.institut-myologie.org\/imotion\/?p=2806"},"modified":"2022-11-08T17:45:25","modified_gmt":"2022-11-08T15:45:25","slug":"letude-inceptus-confirme-la-frequence-de-latteinte-hepatique-dans-la-myopathie-myotubulaire-liee-a-lx","status":"publish","type":"post","link":"https:\/\/www.institut-myologie.org\/imotion\/2022\/10\/11\/letude-inceptus-confirme-la-frequence-de-latteinte-hepatique-dans-la-myopathie-myotubulaire-liee-a-lx\/","title":{"rendered":"L\u2019\u00e9tude INCEPTUS confirme la fr\u00e9quence de l\u2019atteinte h\u00e9patique dans la myopathie myotubulaire li\u00e9e \u00e0 l\u2019X"},"content":{"rendered":"\n<p>L\u2019\u00e9tude internationale INCEPTUS, une \u00e9tude d\u2019histoire naturelle pr\u00e9alable \u00e0&nbsp;<a href=\"https:\/\/www.afm-telethon.fr\/fr\/myopathie-myotubulaire-liee-lx-essai-aspiro\" target=\"_blank\" rel=\"noreferrer noopener\">l\u2019essai de th\u00e9rapie g\u00e9nique ASPIRO<\/a>&nbsp;\u00e0 laquelle a contribu\u00e9 I-Motion, a concern\u00e9 34 enfants \u00e2g\u00e9s de moins de 4 ans pr\u00e9sentant une myopathie myotubulaire li\u00e9e \u00e0 l\u2019X sous assistance respiratoire.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Au cours d\u2019un suivi m\u00e9dian de 13 mois (de 5 mois \u00e0 plus de 2,5 ans), il y a eu trois d\u00e9c\u00e8s (par pneumopathie d\u2019inhalation, d\u00e9faillance cardio-respiratoire et h\u00e9morragie h\u00e9patique avec p\u00e9liose) et 61 \u00ab&nbsp;\u00e9v\u00e9nements s\u00e9rieux&nbsp;\u00bb li\u00e9s \u00e0 la maladie chez 20 participants, dont 52 respiratoires chez 18 participants&nbsp;;<\/li><li>80% des participants avaient une assistance ventilatoire plus de 16h\/jour (avec un \u00e2ge moyen de la trach\u00e9otomie de 3,5 mois) et 20% de 6 \u00e0 16h\/jour&nbsp;;<\/li><li>97% avaient une gastrostomie&nbsp;;<\/li><li>91% pr\u00e9sentaient une&nbsp;<a href=\"https:\/\/www.institut-myologie.org\/2021\/12\/27\/de-latteinte-hepatique-dans-la-myopathie-myotubulaire\/\">atteinte h\u00e9patique<\/a>&nbsp;(dont huit avant l\u2019inclusion)&nbsp;: au cours de l\u2019\u00e9tude, 29 ont pr\u00e9sent\u00e9 au moins une fois une \u00e9l\u00e9vation des transaminases et douze une \u00e9l\u00e9vation de la bilirubine&nbsp;; l\u2019\u00e9chographie h\u00e9patique \u00e9tait anormale dans neuf cas&nbsp;;<\/li><li>seuls sept participants pouvaient tenir assis sans support plus de 30 secondes (dont un qui a perdu ult\u00e9rieurement cette capacit\u00e9)&nbsp;; les scores au CHOP-INTEND allaient de 19 \u00e0 51.<\/li><li>Les param\u00e8tres respiratoires et moteurs sont rest\u00e9s stables tout au long de l\u2019\u00e9tude.<\/li><\/ul>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\"><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><p>&nbsp;<\/p><p>Voir aussi \u00ab&nbsp;<a href=\"https:\/\/www.afm-telethon.fr\/fr\/actualites\/myopathie-myotubulaire-publication-des-resultats-de-letude-inceptus\">Myopathie myotubulaire : publication des r\u00e9sultats de l\u2019\u00e9tude INCEPTUS<\/a>&nbsp;\u00bb<\/p><\/blockquote>\n","protected":false},"excerpt":{"rendered":"<p>L\u2019\u00e9tude internationale INCEPTUS, une \u00e9tude d\u2019histoire naturelle pr\u00e9alable \u00e0&nbsp;l\u2019essai de th\u00e9rapie g\u00e9nique ASPIRO&nbsp;\u00e0 laquelle a contribu\u00e9 I-Motion, a concern\u00e9 34 enfants \u00e2g\u00e9s de moins de 4 ans pr\u00e9sentant une myopathie myotubulaire li\u00e9e \u00e0 l\u2019X sous assistance respiratoire. Au cours d\u2019un suivi m\u00e9dian de 13 mois (de 5 mois \u00e0 plus de 2,5 ans), il y &hellip; <a href=\"https:\/\/www.institut-myologie.org\/imotion\/2022\/10\/11\/letude-inceptus-confirme-la-frequence-de-latteinte-hepatique-dans-la-myopathie-myotubulaire-liee-a-lx\/\">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":[1],"tags":[],"class_list":["post-2806","post","type-post","status-publish","format-standard","hentry","category-non-classifiee"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>L\u2019\u00e9tude INCEPTUS confirme la fr\u00e9quence de l\u2019atteinte h\u00e9patique dans la myopathie myotubulaire li\u00e9e \u00e0 l\u2019X - 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\/letude-inceptus-confirme-la-frequence-de-latteinte-hepatique-dans-la-myopathie-myotubulaire-liee-a-lx\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"L\u2019\u00e9tude INCEPTUS confirme la fr\u00e9quence de l\u2019atteinte h\u00e9patique dans la myopathie myotubulaire li\u00e9e \u00e0 l\u2019X - I-Motion\" \/>\n<meta property=\"og:description\" content=\"L\u2019\u00e9tude internationale INCEPTUS, une \u00e9tude d\u2019histoire naturelle pr\u00e9alable \u00e0&nbsp;l\u2019essai de th\u00e9rapie g\u00e9nique ASPIRO&nbsp;\u00e0 laquelle a contribu\u00e9 I-Motion, a concern\u00e9 34 enfants \u00e2g\u00e9s de moins de 4 ans pr\u00e9sentant une myopathie myotubulaire li\u00e9e \u00e0 l\u2019X sous assistance respiratoire. Au cours d\u2019un suivi m\u00e9dian de 13 mois (de 5 mois \u00e0 plus de 2,5 ans), il y &hellip; Continued\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.institut-myologie.org\/imotion\/2022\/10\/11\/letude-inceptus-confirme-la-frequence-de-latteinte-hepatique-dans-la-myopathie-myotubulaire-liee-a-lx\/\" \/>\n<meta property=\"og:site_name\" content=\"I-Motion\" \/>\n<meta property=\"article:published_time\" content=\"2022-10-11T15:36:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2022-11-08T15:45:25+00:00\" \/>\n<meta name=\"author\" content=\"Anne Berthomier\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"\u00c9crit par\" \/>\n\t<meta name=\"twitter:data1\" content=\"Anne Berthomier\" \/>\n\t<meta name=\"twitter:label2\" content=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.institut-myologie.org\/imotion\/2022\/10\/11\/letude-inceptus-confirme-la-frequence-de-latteinte-hepatique-dans-la-myopathie-myotubulaire-liee-a-lx\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.institut-myologie.org\/imotion\/2022\/10\/11\/letude-inceptus-confirme-la-frequence-de-latteinte-hepatique-dans-la-myopathie-myotubulaire-liee-a-lx\/\"},\"author\":{\"name\":\"Anne Berthomier\",\"@id\":\"https:\/\/www.institut-myologie.org\/imotion\/#\/schema\/person\/ecf0b87715a026a200491fe2d7649def\"},\"headline\":\"L\u2019\u00e9tude INCEPTUS confirme la fr\u00e9quence de l\u2019atteinte h\u00e9patique dans la myopathie myotubulaire li\u00e9e \u00e0 l\u2019X\",\"datePublished\":\"2022-10-11T15:36:00+00:00\",\"dateModified\":\"2022-11-08T15:45:25+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.institut-myologie.org\/imotion\/2022\/10\/11\/letude-inceptus-confirme-la-frequence-de-latteinte-hepatique-dans-la-myopathie-myotubulaire-liee-a-lx\/\"},\"wordCount\":286,\"publisher\":{\"@id\":\"https:\/\/www.institut-myologie.org\/imotion\/#organization\"},\"articleSection\":[\"Non classifi\u00e9(e)\"],\"inLanguage\":\"fr-FR\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www.institut-myologie.org\/imotion\/2022\/10\/11\/letude-inceptus-confirme-la-frequence-de-latteinte-hepatique-dans-la-myopathie-myotubulaire-liee-a-lx\/\",\"url\":\"https:\/\/www.institut-myologie.org\/imotion\/2022\/10\/11\/letude-inceptus-confirme-la-frequence-de-latteinte-hepatique-dans-la-myopathie-myotubulaire-liee-a-lx\/\",\"name\":\"L\u2019\u00e9tude INCEPTUS confirme la fr\u00e9quence de l\u2019atteinte h\u00e9patique dans la myopathie myotubulaire li\u00e9e \u00e0 l\u2019X - 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