{"id":8972,"date":"2022-10-01T20:29:21","date_gmt":"2022-10-01T20:29:21","guid":{"rendered":"https:\/\/dupmecp2.eu\/summary-of-the-2022-family-conference-in-houston\/"},"modified":"2022-11-11T15:20:24","modified_gmt":"2022-11-11T15:20:24","slug":"resumen-de-la-conferencia-de-la-familia-2022-en-houston","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/resumen-de-la-conferencia-de-la-familia-2022-en-houston\/","title":{"rendered":"Resumen de la conferencia familiar de 2022 en Houston"},"content":{"rendered":"<p>La conferencia familiar bianual se celebr\u00f3 en Houston (Texas, EE.UU.) del 23 al 24 de septiembre de 2022. Fue organizada por la profesora Huda Zoghbi, del Instituto de Investigaci\u00f3n Neurol\u00f3gica (NRI, Houston, Texas). El programa fue muy apretado e incluy\u00f3 presentaciones de avances cient\u00edficos sobre el s\u00edndrome. <\/p>\n\n<figure class=\"wp-block-image size-large is-resized\"><img fetchpriority=\"high\" decoding=\"async\" src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022_2-edited.jpg\" alt=\"\" class=\"wp-image-8778\" width=\"413\" height=\"551\" srcset=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022_2-edited.jpg 800w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022_2-edited-225x300.jpg 225w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022_2-edited-768x1024.jpg 768w\" sizes=\"(max-width: 413px) 100vw, 413px\" \/><figcaption class=\"wp-element-caption\">David y Prof. Huda Zoghbi<\/figcaption><\/figure>\n\n<p>David Covini, vicepresidente de la asociaci\u00f3n francesa \" Les petits Mec P2 \", presidente de la asociaci\u00f3n austriaca \" Lasst uns MDS heilen \" y miembro de las comisiones cient\u00edficas de ambas ONG, asisti\u00f3 al acto. Se reuni\u00f3 con las familias participantes, los miembros activos de las asociaciones americanas y los investigadores.<\/p>\n\n<p>A continuaci\u00f3n, David fue recibido por la profesora Huda Zoghbi y su equipo. Esta reuni\u00f3n les permiti\u00f3 discutir con m\u00e1s detalle la evoluci\u00f3n de los proyectos e identificar las acciones que necesitan nuestra ayuda y contribuci\u00f3n.<\/p>\n\n<figure class=\"wp-block-image size-large is-resized\"><img decoding=\"async\" data-src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-1024x768.jpg\" alt=\"\" class=\"wp-image-8770 lazyload\" width=\"636\" height=\"477\" data-srcset=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-1024x768.jpg 1024w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-300x225.jpg 300w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-768x576.jpg 768w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-1536x1152.jpg 1536w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022.jpg 1600w\" data-sizes=\"(max-width: 636px) 100vw, 636px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 636px; --smush-placeholder-aspect-ratio: 636\/477;\" \/><figcaption class=\"wp-element-caption\">De izquierda a derecha: Dr. Pehlivan, Prof. Zoghbi, David, Ak Muharrem, Dr. Suter<\/figcaption><\/figure>\n\n<p><\/p>\n\n<p>El Prof. Huda Zoghbi, el Dr. Davut Pehlivan y el Dr. Bernhard Suter nos resumieron posteriormente los puntos importantes de la conferencia:<\/p>\n\n<ul class=\"wp-block-list\">\n<li>Ionis Pharmaceuticals tiene la intenci\u00f3n de lanzar un estudio observacional o de historia natural para aprender m\u00e1s sobre la progresi\u00f3n natural de la enfermedad del s\u00edndrome de duplicaci\u00f3n de MECP2 (SMD) en 2023. Se espera que el estudio de historia natural se lleve a cabo en los Estados Unidos y tendr\u00e1 un tama\u00f1o limitado para incluir a aproximadamente 40 individuos con SMD. Se prev\u00e9 que el estudio de historia natural conste de visitas trimestrales en el primer a\u00f1o, seguidas de visitas semestrales en el segundo a\u00f1o. Ionis Pharmaceuticals tiene la intenci\u00f3n de interactuar con la FDA en 2023. Sin embargo, es importante aclarar que esto es distinto de la presentaci\u00f3n o aprobaci\u00f3n de una IND (Investigational new drug application). Ionis Pharmaceuticals har\u00e1 m\u00e1s anuncios al respecto.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>Los Dres. Davut Pehlivan y Sameer Bajikar hablaron de los estudios gen\u00f3micos. Los estudios gen\u00f3micos siguen revelando que los diferentes tipos de duplicaciones (es decir, simple - complejo - triplicaci\u00f3n) y las mediciones del nivel de la prote\u00edna MeCP2 guiar\u00e1n la dosificaci\u00f3n de ASO (Oligonucle\u00f3tido Antisens). El reclutamiento para los estudios gen\u00e9ticos est\u00e1 en curso y se puede participar desde cualquier parte del mundo.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>La Dra. Mirjana Maletic-Savatic habl\u00f3 sobre los estudios de biomarcadores. Los estudios de descubrimiento de biomarcadores van por buen camino y tenemos un pu\u00f1ado de biomarcadores candidatos que difieren entre los SMD, Rett y los individuos sanos. Nuestro objetivo es reducir la lista de biomarcadores candidatos a trav\u00e9s del estudio NHS e identificar uno o dos biomarcadores fuertes que puedan reflejar la gravedad de la enfermedad y la respuesta a ASO.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>Los Dres. Sarika Peters y Jeff Neul hablaron sobre el desarrollo de medidas de resultados. Habr\u00e1 un esfuerzo multic\u00e9ntrico de desarrollo de la escala de impresi\u00f3n cl\u00ednica con el objetivo de utilizar esta escala en el pr\u00f3ximo ensayo cl\u00ednico.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>El Dr. Zhenya Ivakine inform\u00f3 sobre un modelo de rat\u00f3n recientemente desarrollado que expresa tanto MECP2 como IRAK1 con el objetivo de obtener un mejor modelo animal para su uso en estudios de SMD. Tambi\u00e9n proporcion\u00f3 informaci\u00f3n actualizada sobre la edici\u00f3n del genoma en los SMD basada en CRISPR\/Cas9. Aunque los resultados son alentadores, se necesitan m\u00e1s estudios de laboratorio antes de proceder a los estudios en humanos.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>La Dra. Ashley Anderson present\u00f3 los resultados preliminares de un estudio dise\u00f1ado para encontrar reguladores de MeCP2. La inhibici\u00f3n de estos reguladores puede conducir a nuevos tratamientos, pero estos estudios se encuentran en una fase temprana y requieren m\u00e1s trabajo.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>Tambi\u00e9n escuchamos a los expertos cl\u00ednicos acerca de los problemas comunes (por ejemplo, gastrointestinales, epilepsia, infecciones frecuentes) en los SMD. Dado que la epilepsia es el principal problema que causa regresi\u00f3n en los SMD y que no existe una orientaci\u00f3n clara sobre la medicaci\u00f3n anticonvulsiva, tenemos previsto poner en marcha un amplio estudio de encuesta para identificar el enfoque m\u00e1s beneficioso para el tratamiento de las convulsiones en los SMD.<\/li>\n<\/ul>\n\n<p><\/p>","protected":false},"excerpt":{"rendered":"<p>The biannual family conference was held in Houston (Texas, USA) from September 23 to 24, 2022. It was organized by Prof. Huda Zoghbi of the Neurological Research Institute (NRI, Houston, [&hellip;]<\/p>","protected":false},"author":2,"featured_media":5846,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[87],"tags":[],"class_list":["post-8972","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>Summary of the 2022 family conference in Houston - 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\/resumen-de-la-conferencia-de-la-familia-2022-en-houston\/?lang=en\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Summary of the 2022 family conference in Houston - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"The biannual family conference was held in Houston (Texas, USA) from September 23 to 24, 2022. 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