{"id":15713,"date":"2023-03-12T19:22:19","date_gmt":"2023-03-12T19:22:19","guid":{"rendered":"https:\/\/dupmecp2.eu\/premier-traitement-approuve-pour-le-syndrome-de-rett-un-espoir-potentiel-pour-les-patients-atteints-du-syndrome-de-duplication-de-mecp2\/"},"modified":"2023-03-15T20:53:12","modified_gmt":"2023-03-15T20:53:12","slug":"pierwsze-zatwierdzone-leczenie-zespolu-retta-potencjalna-nadzieja-dla-pacjentow-z-zespolem-duplikacji-mecp2-2","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/pierwsze-zatwierdzone-leczenie-zespolu-retta-potencjalna-nadzieja-dla-pacjentow-z-zespolem-duplikacji-mecp2-2\/","title":{"rendered":"Pierwsze zatwierdzone leczenie zespo\u0142u Retta: potencjalna nadzieja dla pacjent\u00f3w z zespo\u0142em duplikacji MECP2?"},"content":{"rendered":"<p>10 marca 2023 r. to bardzo wa\u017cna data dla spo\u0142eczno\u015bci os\u00f3b cierpi\u0105cych na rzadkie choroby.<\/p>\n\n\n\n<p>Trofinetyd zosta\u0142 zatwierdzony przez FDA do leczenia pacjent\u00f3w z zespo\u0142em Retta, co czyni go pierwszym lekiem na t\u0119 chorob\u0119. <a href=\"#rett\" target=\"_blank\" rel=\"noreferrer noopener\">Zesp\u00f3\u0142 Retta<\/a>. Oczekuje si\u0119, \u017ce lek, sprzedawany pod nazw\u0105 Daybue\u2122, b\u0119dzie dost\u0119pny komercyjnie w USA do ko\u0144ca kwietnia 2023 r. dla pacjent\u00f3w w wieku powy\u017cej 2 lat.<\/p>\n\n\n\n<p>Trofinetyd jest tripeptydem pochodz\u0105cym z bia\u0142ka zwanego insulinopodobnym czynnikiem wzrostu-1 (IGF-1). Mo\u017ce by\u0107 podawany doustnie. Uwa\u017ca si\u0119, \u017ce lek zmniejsza stan zapalny i poprawia komunikacj\u0119 mi\u0119dzy neuronami w m\u00f3zgu, kt\u00f3ra jest zaburzona u os\u00f3b z zespo\u0142em Retta. Badania kliniczne III fazy wykaza\u0142y, \u017ce trofinetyd poprawia r\u00f3\u017cne objawy zespo\u0142u Retta, w tym komunikacj\u0119 spo\u0142eczn\u0105, zachowanie i funkcje r\u0105k.<\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link has-background wp-element-button\" href=\"\" style=\"border-radius:12px;background-color:#f7a13f\" target=\"_blank\" rel=\"noreferrer noopener\">Przeczytaj wi\u0119cej o Acadii<\/a><\/div>\n<\/div>\n\n\n\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Chocia\u017c podstawowa przyczyna genetyczna zespo\u0142u duplikacji MECP2 (MDS) jest inna ni\u017c w przypadku <a href=\"#rett\">Zesp\u00f3\u0142 Retta<\/a>Oba zespo\u0142y wi\u0105\u017c\u0105 si\u0119 z mutacj\u0105 w genie MECP2. Zesp\u00f3\u0142 Retta dotyka g\u0142\u00f3wnie dziewczynek i charakteryzuje si\u0119 niewystarczaj\u0105cym poziomem aktywnego bia\u0142ka MeCP2, podczas gdy zesp\u00f3\u0142 duplikacji MECP2, diagnozowany g\u0142\u00f3wnie u ch\u0142opc\u00f3w, skutkuje wy\u017cszym poziomem tego bia\u0142ka. Zar\u00f3wno zesp\u00f3\u0142 Retta, jak i MDS powoduj\u0105 zaburzenia rozwoju i funkcji m\u00f3zgu, prowadz\u0105c do podobnych objaw\u00f3w, takich jak niepe\u0142nosprawno\u015b\u0107 intelektualna, problemy z koordynacj\u0105 i drgawki.<\/p>\n\n\n\n<p>W rezultacie post\u0119p naukowy w zespole Retta pomaga zwi\u0119kszy\u0107 wiedz\u0119 na temat MDS. Zatwierdzenie Daybue\u2122 umo\u017cliwi\u0142oby dalsze badania nad zastosowaniem trofinetydu u pacjent\u00f3w z zespo\u0142em duplikacji MECP2.<\/p>\n\n\n\n<p>Walka o zesp\u00f3\u0142 duplikacji genu MECP2 jeszcze si\u0119 nie sko\u0144czy\u0142a. Przyczy\u0144 si\u0119 do post\u0119pu bada\u0144 nad leczeniem MDS, przekazuj\u0105c darowizny, podnosz\u0105c \u015bwiadomo\u015b\u0107 na temat zespo\u0142u i do\u0142\u0105czaj\u0105c do naszych dzia\u0142a\u0144!<\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link has-background wp-element-button\" href=\"https:\/\/dupmecp2.eu\/pl\/become-a-member\/?lang=en\" style=\"border-radius:12px;background-color:#f7a13f\">Do\u0142\u0105cz do nas!<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Le 10 mars 2023 marque une date tr\u00e8s importante pour la communaut\u00e9 des maladies rares. Le trofinetide a \u00e9t\u00e9 approuv\u00e9 par la FDA pour le traitement des patients atteints du [&hellip;]<\/p>","protected":false},"author":1,"featured_media":15704,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[7],"tags":[],"class_list":["post-15713","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-actualite"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Premier traitement approuv\u00e9 pour le syndrome de Rett: un espoir potentiel pour les patients atteints du syndrome de duplication de MECP2 ? - 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\/pierwsze-zatwierdzone-leczenie-zespolu-retta-potencjalna-nadzieja-dla-pacjentow-z-zespolem-duplikacji-mecp2-2\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Premier traitement approuv\u00e9 pour le syndrome de Rett: un espoir potentiel pour les patients atteints du syndrome de duplication de MECP2 ? - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Le 10 mars 2023 marque une date tr\u00e8s importante pour la communaut\u00e9 des maladies rares. 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