{"id":15745,"date":"2023-03-12T19:22:19","date_gmt":"2023-03-12T19:22:19","guid":{"rendered":"https:\/\/dupmecp2.eu\/erste-zugelassene-behandlung-fuer-das-rett-syndrom-eine-moegliche-hoffnung-fuer-patienten-mit-mecp2-genduplikation-syndrom\/"},"modified":"2023-07-06T19:53:20","modified_gmt":"2023-07-06T19:53:20","slug":"pierwsze-zugelassene-behandlung-for-das-rett-syndrom-eine-moegliche-hoffnung-for-patienten-mit-mecp2-genduplikation-syndrom","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/pierwsze-zugelassene-behandlung-for-das-rett-syndrom-eine-moegliche-hoffnung-for-patienten-mit-mecp2-genduplikation-syndrom\/","title":{"rendered":"Pierwsze kompleksowe leczenie zespo\u0142u Retta: czy to mo\u017cliwe u pacjent\u00f3w z zespo\u0142em MECP2-Genduplikacji?"},"content":{"rendered":"<p>10. M\u00e4rz 2023 jest bardzo wa\u017cn\u0105 dat\u0105 dla spo\u0142eczno\u015bci os\u00f3b cierpi\u0105cych na powa\u017cne choroby.<\/p>\n\n\n\n<p>Trofinetyd zosta\u0142 dopuszczony przez FDA do stosowania w leczeniu pacjent\u00f3w z <a href=\"#rett\" target=\"_blank\" rel=\"noreferrer noopener\">Rett-Syndrom<\/a> i jest to pierwsza terapia dla zespo\u0142u Retta w historii. Lek ten, sprzedawany pod nazw\u0105 Daybue\u2122, b\u0119dzie dost\u0119pny dla pacjent\u00f3w w wieku powy\u017cej 2 lat do ko\u0144ca kwietnia 2023 r. w USA.<\/p>\n\n\n\n<p>Trofinetyd jest tripeptydem pochodz\u0105cym z bia\u0142ka zwanego insulin\u00e4hnlicher Wachstumsfaktor 1 (IGF-1). Es kann m\u00fcndlich verabreicht werden. Zrozumia\u0142e jest, \u017ce lek ten zmniejsza napi\u0119cie i pogarsza komunikacj\u0119 mi\u0119dzy neuronami w m\u00f3zgu, kt\u00f3re wyst\u0119puj\u0105 u os\u00f3b z zespo\u0142em Retta. Badania kliniczne fazy III wykaza\u0142y, \u017ce trofinetyd os\u0142abia r\u00f3\u017cne objawy zespo\u0142u Retta, w tym komunikacj\u0119 spo\u0142eczn\u0105, zachowanie i funkcjonowanie 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>Genetyczna choroba zespo\u0142\u00f3w duplikacji MECP2 (MDS) nie jest zwi\u0105zana z \u017cadn\u0105 inn\u0105 chorob\u0105. <a href=\"#rett\">Zespo\u0142y Retta<\/a>Jednak w obu przypadkach wyst\u0119puje mutacja w genie MECP2. Zesp\u00f3\u0142 Retta dotyka g\u0142\u00f3wnie ch\u0142opc\u00f3w i dziewcz\u0119ta i charakteryzuje si\u0119 niskim poziomem bia\u0142ka MeCP2, podczas gdy MDS, kt\u00f3ry jest diagnozowany g\u0142\u00f3wnie u m\u0142odych ludzi, prowadzi do wy\u017cszego poziomu bia\u0142ka. Co istotne, zar\u00f3wno w przypadku Rett-Syndrom, jak i MDS, obserwuje si\u0119 rozw\u00f3j i funkcjonowanie uk\u0142adu nerwowego, co prowadzi do podobnych objaw\u00f3w, takich jak gorsze zachowanie, problemy z koordynacj\u0105 i zaburzenia w funkcjonowaniu.<\/p>\n\n\n\n<p>W zwi\u0105zku z tym nale\u017cy d\u0105\u017cy\u0107 do pog\u0142\u0119biania wiedzy na temat MDS w ramach bada\u0144 naukowych nad zespo\u0142em Retta. Zulassowanie Daybue\u2122 otwiera drog\u0119 do dalszych bada\u0144 nad zastosowaniem trofinetydu u pacjent\u00f3w z zespo\u0142em genduplikacji MECP2.<\/p>\n\n\n\n<p>Der Kampf um das MECP2-Genduplikation Syndrom ist noch nicht vorbei. Zwr\u00f3\u0107 si\u0119 do nas z pro\u015bb\u0105 o pomoc w badaniach nad leczeniem MDS, aby\u015bmy mogli wykorzysta\u0107 wiedz\u0119 na temat tego zespo\u0142u i wzmocni\u0107 nasze dzia\u0142ania.<\/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\">K\u00e4mpfen Sie mit!<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Der 10. M\u00e4rz 2023 ist ein sehr wichtiges Datum f\u00fcr die Gemeinschaft der seltenen Krankheiten. Trofinetide wurde von der FDA f\u00fcr die Behandlung von Patienten mit Rett-Syndrom zugelassen und ist [&hellip;]<\/p>","protected":false},"author":1,"featured_media":15705,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[57],"tags":[],"class_list":["post-15745","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-aktualitat"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Erste zugelassene Behandlung f\u00fcr das Rett-Syndrom: eine m\u00f6gliche Hoffnung f\u00fcr Patienten mit MECP2-Genduplikation Syndrom? - DupMECP2<\/title>\n<meta name=\"description\" content=\"Trofinetide wurde von der FDA f\u00fcr die Behandlung von Patienten mit Rett-Syndrom zugelassen. Die Zulassung von Daybue\u2122 \u00f6ffnet die T\u00fcr f\u00fcr weitere Forschungen zum Einsatz von Trofinetide bei Patienten mit MECP2-Genduplikation Syndrom.\" \/>\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-zugelassene-behandlung-for-das-rett-syndrom-eine-moegliche-hoffnung-for-patienten-mit-mecp2-genduplikation-syndrom\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Erste zugelassene Behandlung f\u00fcr das Rett-Syndrom: eine m\u00f6gliche Hoffnung f\u00fcr Patienten mit MECP2-Genduplikation Syndrom? - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Trofinetide wurde von der FDA f\u00fcr die Behandlung von Patienten mit Rett-Syndrom zugelassen. Die Zulassung von Daybue\u2122 \u00f6ffnet die T\u00fcr f\u00fcr weitere Forschungen zum Einsatz von Trofinetide bei Patienten mit MECP2-Genduplikation Syndrom.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/dupmecp2.eu\/pl\/pierwsze-zugelassene-behandlung-for-das-rett-syndrom-eine-moegliche-hoffnung-for-patienten-mit-mecp2-genduplikation-syndrom\/?lang=de\" \/>\n<meta property=\"og:site_name\" content=\"DupMECP2\" \/>\n<meta property=\"article:published_time\" content=\"2023-03-12T19:22:19+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-07-06T19:53:20+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2023\/03\/FDA-approval-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1707\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Caroline\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Napisane przez\" \/>\n\t<meta name=\"twitter:data1\" content=\"Caroline\" \/>\n\t<meta name=\"twitter:label2\" content=\"Szacowany czas czytania\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minuty\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/dupmecp2.eu\/erste-zugelassene-behandlung-fuer-das-rett-syndrom-eine-moegliche-hoffnung-fuer-patienten-mit-mecp2-genduplikation-syndrom\/?lang=de#article\",\"isPartOf\":{\"@id\":\"https:\/\/dupmecp2.eu\/erste-zugelassene-behandlung-fuer-das-rett-syndrom-eine-moegliche-hoffnung-fuer-patienten-mit-mecp2-genduplikation-syndrom\/?lang=de\"},\"author\":{\"name\":\"Caroline\",\"@id\":\"https:\/\/dupmecp2.eu\/#\/schema\/person\/b41e8cbba153cd974ee340386af279ee\"},\"headline\":\"Erste zugelassene Behandlung f\u00fcr das Rett-Syndrom: eine m\u00f6gliche Hoffnung f\u00fcr Patienten mit MECP2-Genduplikation Syndrom?\",\"datePublished\":\"2023-03-12T19:22:19+00:00\",\"dateModified\":\"2023-07-06T19:53:20+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/dupmecp2.eu\/erste-zugelassene-behandlung-fuer-das-rett-syndrom-eine-moegliche-hoffnung-fuer-patienten-mit-mecp2-genduplikation-syndrom\/?lang=de\"},\"wordCount\":333,\"publisher\":{\"@id\":\"https:\/\/dupmecp2.eu\/#organization\"},\"image\":{\"@id\":\"https:\/\/dupmecp2.eu\/erste-zugelassene-behandlung-fuer-das-rett-syndrom-eine-moegliche-hoffnung-fuer-patienten-mit-mecp2-genduplikation-syndrom\/?lang=de#primaryimage\"},\"thumbnailUrl\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2023\/03\/FDA-approval-scaled.jpg\",\"articleSection\":[\"Aktualit\u00e4t\"],\"inLanguage\":\"pl-PL\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/dupmecp2.eu\/erste-zugelassene-behandlung-fuer-das-rett-syndrom-eine-moegliche-hoffnung-fuer-patienten-mit-mecp2-genduplikation-syndrom\/?lang=de\",\"url\":\"https:\/\/dupmecp2.eu\/erste-zugelassene-behandlung-fuer-das-rett-syndrom-eine-moegliche-hoffnung-fuer-patienten-mit-mecp2-genduplikation-syndrom\/?lang=de\",\"name\":\"Erste zugelassene Behandlung f\u00fcr das Rett-Syndrom: eine m\u00f6gliche Hoffnung f\u00fcr Patienten mit MECP2-Genduplikation Syndrom? - DupMECP2\",\"isPartOf\":{\"@id\":\"https:\/\/dupmecp2.eu\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/dupmecp2.eu\/erste-zugelassene-behandlung-fuer-das-rett-syndrom-eine-moegliche-hoffnung-fuer-patienten-mit-mecp2-genduplikation-syndrom\/?lang=de#primaryimage\"},\"image\":{\"@id\":\"https:\/\/dupmecp2.eu\/erste-zugelassene-behandlung-fuer-das-rett-syndrom-eine-moegliche-hoffnung-fuer-patienten-mit-mecp2-genduplikation-syndrom\/?lang=de#primaryimage\"},\"thumbnailUrl\":\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2023\/03\/FDA-approval-scaled.jpg\",\"datePublished\":\"2023-03-12T19:22:19+00:00\",\"dateModified\":\"2023-07-06T19:53:20+00:00\",\"description\":\"Trofinetide wurde von der FDA f\u00fcr die Behandlung von Patienten mit Rett-Syndrom zugelassen. 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