{"id":5842,"date":"2022-10-01T20:29:21","date_gmt":"2022-10-01T20:29:21","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/?p=5842"},"modified":"2023-04-17T15:35:22","modified_gmt":"2023-04-17T15:35:22","slug":"conference-familles-2022","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/conference-familles-2022\/","title":{"rendered":"R\u00e9sum\u00e9 de la conf\u00e9rence am\u00e9ricaine des familles 2022"},"content":{"rendered":"

La conf\u00e9rence biannuelle des familles s’est tenue \u00e0 Houston (Texas, USA) du 23 au 24 Septembre 2022. Elle \u00e9tait organis\u00e9e par Pr. Huda Zoghbi de l\u2019institut de recherche neurologique (NRI, Houston, Texas). Le programme \u00e9tait bien charg\u00e9 et comprenait des pr\u00e9sentations des avanc\u00e9es scientifiques sur le syndrome. <\/p>\n\n\n\n

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David et Pr. Huda Zoghbi<\/figcaption><\/figure>\n\n\n\n

David Covini, vice-pr\u00e9sident de l\u2019association fran\u00e7aise \u00ab\u00a0Les petits Mec P2\u00a0\u00bb, pr\u00e9sident de l’association autrichienne \u00ab\u00a0Lasst uns MDs heilen\u00a0\u00bb et membre des commissions scientifiques des deux associations, s\u2019est rendu sur place. Il a rencontr\u00e9 les familles pr\u00e9sentes, les membres actifs des associations am\u00e9ricaines, et les chercheurs.<\/p>\n\n\n\n

David a \u00e9t\u00e9 ensuite re\u00e7u par Pr. Huda Zoghbi et son \u00e9quipe. Ce rendez-vous a permis de discuter plus en d\u00e9tails de l\u2019\u00e9volution des projets et d\u2019identifier des actions n\u00e9cessitant notre aide et contribution.<\/p>\n\n\n\n

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De gauche \u00e0 droite Dr. Pehlivan, Pr. Zoghbi, David, Ak Muharrem, Dr. Suter<\/figcaption><\/figure>\n\n\n\n

<\/p>\n\n\n\n

Pr. Huda Zoghbi, Dr. Davut Pehlivan and Dr. Bernhard Suter ont par la suite r\u00e9sum\u00e9 les points importants de la conf\u00e9rence pour nous :<\/p>\n\n\n\n

    \n
  • Ionis Pharmaceuticals a l’intention de lancer une \u00e9tude d’observation pour en savoir plus sur l’\u00e9volution naturelle de la maladie en 2023. L’\u00e9tude sur l’evolution naturelle (NHS) devrait \u00eatre men\u00e9e aux \u00c9tats-Unis et sa taille sera limit\u00e9e \u00e0 environ 40 personnes atteintes de duplication du g\u00e8ne MECP2. Il est pr\u00e9vu que l’\u00e9tude de l’histoire naturelle comprenne des visites trimestrielles la premi\u00e8re ann\u00e9e, suivies de visites semestrielles pendant la deuxi\u00e8me ann\u00e9e de l’\u00e9tude. Ionis Pharmaceuticals a l’intention d’interagir avec la FDA, l’agence am\u00e9ricaine du m\u00e9dicament, en 2023. Cependant, il est important de pr\u00e9ciser qu’il s’agit d’une d\u00e9marche distincte de la soumission ou de l’approbation d’un nouveau traitement (IND, Investitional new drug application).<\/li>\n<\/ul>\n\n\n\n
      \n
    • Les docteurs Davut Pehlivan et Sameer Bajikar ont parl\u00e9 des \u00e9tudes g\u00e9nomiques. Les \u00e9tudes g\u00e9nomiques continuent de r\u00e9v\u00e9ler que diff\u00e9rents types de duplications (c’est-\u00e0-dire simples – complexes – triples) et de les taux mesures de prot\u00e9ine MeCP2 guideront la dose d’ASO (oligonucl\u00e9otides antisens) \u00e0 administrer. Le recrutement pour les \u00e9tudes g\u00e9n\u00e9tiques est en cours et vous pouvez y participer du monde entier.<\/li>\n<\/ul>\n\n\n\n
        \n
      • Dr Mirjana Maletic-Savatic a parl\u00e9 des \u00e9tudes sur les biomarqueurs. Les \u00e9tudes de d\u00e9couverte de biomarqueurs sont en cours. Plusieurs biomarqueurs permettant de diff\u00e9rencier entre le syndrome de la duplication, le syndrome de Rett et des personnes saines ont \u00e9t\u00e9 identifi\u00e9. Le but est \u00e0 pr\u00e9sent de r\u00e9dure la liste des biomarqueurs gr\u00e2ce la l’\u00e9tude d’\u00e9volution de la maladie (NHS) et d’identifier un ou deux biomarqueurs forts pouvant refleter la gravit\u00e9 de la maladie et la r\u00e9ponse au traitement par ASO.<\/li>\n<\/ul>\n\n\n\n
          \n
        • Les docteurs Sarika Peters et Jeff Neul ont parl\u00e9 de l’avanc\u00e9e sur les mesures de r\u00e9sultats. Il y aura un un effort de d\u00e9veloppement d’une \u00e9chelle d’impression clinique multicentrique dans le but d’utiliser cette \u00e9chelle dans le l’essai clinique \u00e0 venir.<\/li>\n<\/ul>\n\n\n\n
            \n
          • Dr Zhenya Ivakine a pr\u00e9sent\u00e9 un nouveau mod\u00e8le de souris qui exprime \u00e0 la fois MECP2 et IRAK1 dans le but de cr\u00e9er un meilleur mod\u00e8le animal pour les \u00e9tudes sur le syndrome. Il a \u00e9galement fait le point sur l’\u00e9dition du g\u00e9nome bas\u00e9e sur CRISPR\/Cas9 dans les cases de duplication du g\u00e8ne MECP2. Bien que les r\u00e9sultats soient encourageants, d’autres \u00e9tudes en laboratoire sont n\u00e9cessaires avant de passer aux \u00e9tudes humaines.<\/li>\n<\/ul>\n\n\n\n
              \n
            • Dr Ashley Anderson a pr\u00e9sent\u00e9 les r\u00e9sultats pr\u00e9liminaires d’un criblage pour trouver des r\u00e9gulateurs de MeCP2. L’inhibition de ces r\u00e9gulateurs pourrait mener \u00e0 de nouveaux traitements, mais ces \u00e9tudes sont en phase initiale et doivent \u00eatre approfondies avant de passer \u00e0 des \u00e9tudes sur l’homme.<\/li>\n<\/ul>\n\n\n\n
                \n
              • Les experts cliniques ont \u00e9galement parl\u00e9 des probl\u00e8mes courants (ex. gastro-intestinaux, \u00e9pilepsie, infections fr\u00e9quentes) chez les porteurs de la duplication. \u00c9tant donn\u00e9 que l’\u00e9pilepsie est le principal probl\u00e8me \u00e0 l’origine de la r\u00e9gression patients, et qu’il n’existe pas de directives claires sur les m\u00e9dicaments contre les crises, ils pr\u00e9voient de lancer une vaste enqu\u00eate.<\/li>\n<\/ul>\n\n\n\n

                <\/p>","protected":false},"excerpt":{"rendered":"

                La conf\u00e9rence biannuelle des familles s’est tenue \u00e0 Houston (Texas, USA) du 23 au 24 Septembre 2022. Elle \u00e9tait organis\u00e9e par Pr. Huda Zoghbi de l\u2019institut de recherche neurologique (NRI, […]<\/p>","protected":false},"author":2,"featured_media":5845,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[7],"tags":[],"class_list":["post-5842","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-actualite"],"yoast_head":"\nR\u00e9sum\u00e9 de la conf\u00e9rence am\u00e9ricaine des familles 2022 - DupMECP2<\/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:\/\/dupmecp2.eu\/pl\/conference-familles-2022\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"R\u00e9sum\u00e9 de la conf\u00e9rence am\u00e9ricaine des familles 2022 - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"La conf\u00e9rence biannuelle des familles s’est tenue \u00e0 Houston (Texas, USA) du 23 au 24 Septembre 2022. 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