{"id":15701,"date":"2023-03-12T19:22:19","date_gmt":"2023-03-12T19:22:19","guid":{"rendered":"https:\/\/dupmecp2.eu\/?p=15701"},"modified":"2023-03-15T20:51:15","modified_gmt":"2023-03-15T20:51:15","slug":"el-primer-tratamiento-aprobado-para-el-sindrome-de-rett-una-esperanza-potencial-para-los-pacientes-con-sindrome-de-duplicacion-mecp2","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/el-primer-tratamiento-aprobado-para-el-sindrome-de-rett-una-esperanza-potencial-para-los-pacientes-con-sindrome-de-duplicacion-mecp2\/","title":{"rendered":"Primer tratamiento aprobado para el s\u00edndrome de Rett: \u00bfuna esperanza potencial para los pacientes con s\u00edndrome de duplicaci\u00f3n de MECP2?"},"content":{"rendered":"<p>El 10 de marzo de 2023 marca una fecha muy importante en la comunidad de enfermedades raras.<\/p>\n\n\n\n<p>La trofinetida ha sido aprobada por la FDA para el tratamiento de pacientes con <a href=\"#rett\" target=\"_blank\" rel=\"noreferrer noopener\">S\u00edndrome de Rett<\/a>convirti\u00e9ndolo en el primer tratamiento para el s\u00edndrome de Rett. Se espera que el f\u00e1rmaco, comercializado con el nombre de Daybue\u2122, est\u00e9 disponible comercialmente en Estados Unidos a finales de abril de 2023 para pacientes mayores de 2 a\u00f1os.<\/p>\n\n\n\n<p>La trofinetida es un trip\u00e9ptido derivado de una prote\u00edna denominada factor de crecimiento 1 similar a la insulina (IGF-1). Puede administrarse por v\u00eda oral. Se cree que este f\u00e1rmaco reduce la inflamaci\u00f3n y mejora la comunicaci\u00f3n entre las neuronas del cerebro, que est\u00e1 deteriorada en los individuos con s\u00edndrome de Rett. Los ensayos cl\u00ednicos de fase III han demostrado que la trofinetida mejora diversos s\u00edntomas del s\u00edndrome de Rett, como la comunicaci\u00f3n social, el comportamiento y la funci\u00f3n de las manos.<\/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\">M\u00e1s informaci\u00f3n sobre Acadia<\/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>Aunque la causa gen\u00e9tica subyacente del s\u00edndrome de duplicaci\u00f3n de MECP2 (SMD) es diferente de la del s\u00edndrome de <a href=\"#rett\">S\u00edndrome de Rett<\/a>Ambos trastornos implican una mutaci\u00f3n en el gen MECP2. El s\u00edndrome de Rett afecta sobre todo a las ni\u00f1as, y tiene muy poca prote\u00edna MeCP2 activa, mientras que el SMD, diagnosticado sobre todo en ni\u00f1os, presenta niveles m\u00e1s altos de la prote\u00edna. Curiosamente, tanto el Rett como el SMD provocan alteraciones en el desarrollo y la funci\u00f3n cerebrales, que dan lugar a s\u00edntomas similares, como discapacidad intelectual, problemas de coordinaci\u00f3n y convulsiones.<\/p>\n\n\n\n<p>Por lo tanto, los avances cient\u00edficos sobre el s\u00edndrome de Rett contribuyen a aumentar los conocimientos sobre los dem\u00e1s. La aprobaci\u00f3n de Daybue\u2122 abre la puerta a nuevas investigaciones sobre el uso de trofinetida en pacientes con s\u00edndrome de duplicaci\u00f3n de MECP2.<\/p>\n\n\n\n<p>La lucha no ha terminado para el s\u00edndrome de duplicaci\u00f3n MECP2. Contribuya a avanzar en la investigaci\u00f3n de un tratamiento para el SMD donando, concienciando sobre el s\u00edndrome y uni\u00e9ndose a nuestras acciones.<\/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\/es\/become-a-member\/?lang=en\" style=\"border-radius:12px;background-color:#f7a13f\">\u00a1\u00danete a nuestra lucha!<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>The 10th of March 2023 sets a very important date in the rare disease community. Trofinetide has been approved by the FDA for treatment of patients with Rett Syndrome, making [&hellip;]<\/p>","protected":false},"author":1,"featured_media":15703,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[87],"tags":[],"class_list":["post-15701","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>First approved treatment for Rett syndrome: a potential hope for patients with MECP2 duplication syndrome? - 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\/es\/el-primer-tratamiento-aprobado-para-el-sindrome-de-rett-una-esperanza-potencial-para-los-pacientes-con-sindrome-de-duplicacion-mecp2\/?lang=en\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"First approved treatment for Rett syndrome: a potential hope for patients with MECP2 duplication syndrome? - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"The 10th of March 2023 sets a very important date in the rare disease community. 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