{"id":15080,"date":"2022-10-01T20:29:21","date_gmt":"2022-10-01T20:29:21","guid":{"rendered":"https:\/\/dupmecp2.eu\/resume-de-la-conference-americaine-des-familles-2022\/"},"modified":"2023-02-19T19:51:35","modified_gmt":"2023-02-19T19:51:35","slug":"resumen-de-la-conferencia-americana-de-familias-2022","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/resumen-de-la-conferencia-americana-de-familias-2022\/","title":{"rendered":"Resumen de la conferencia familiar de 2022"},"content":{"rendered":"

La conferencia familiar bianual se celebr\u00f3 en Houston (Texas, EE.UU.) del 23 al 24 de septiembre de 2022, esta fue organizada por la Prof. Huda Zoghbi del Instituto de Investigaci\u00f3n Neurol\u00f3gica (NRI, Houston, Texas). El programa fue muy rico e incluy\u00f3 presentaciones de avances cient\u00edficos sobre el s\u00edndrome. <\/p>\n\n\n\n

\"\"
David y Profesor Huda Zoghbi<\/figcaption><\/figure>\n\n\n\n

David Covini, vice-presidente 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; conoci\u00f3 a las familias participantes, a los miembros activos de las asociaciones americanas y a los investigadores.<\/p>\n\n\n\n

David fue recibido por la profesora Huda Zoghbi y su equipo, y 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\n\n

\"\"
Foto de izquierda a derecha (MD Pehlivan, Pr. Zoghbi, David, Ak Muharrem, MD Suter<\/figcaption><\/figure>\n\n\n\n

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

Prof. Huda Zoghbi, Dr. Davut Pehlivan y el Dr. Bernhard Suter nos resumieron posteriormente los puntos importantes de la conferencia:<\/p>\n\n\n\n

    \n
  • Ionis Pharmaceuticals tiene la intenci\u00f3n de lanzar un estudio observacional o de historia natural para aprender m\u00e1s sobre la progresi\u00f3n natural del s\u00edndrome de duplicaci\u00f3n de MECP2 (SMD) en 2023. Se espera que el estudio de historia natural se realice en Estados Unidos y su tama\u00f1o se limitar\u00e1 a aproximadamente 40 individuos con SMD. Se prev\u00e9 que el estudio de historia natural conste de visitas trimestrales durante el primer a\u00f1o, seguidas de visitas semestrales durante el segundo a\u00f1o. Ionis Pharmaceuticals espera interactuar con la FDA en 2023, pero es importante se\u00f1alar que esto es diferente de la presentaci\u00f3n o aprobaci\u00f3n de una IND (Investigational New Drug application).<\/li>\n<\/ul>\n\n\n\n
      \n
    • Los doctores Davut Pehlivan y Sameer Bajikar hablaron de los estudios gen\u00f3micos, que siguen revelando que los distintos tipos de duplicaci\u00f3n (es decir, simple - completa - triplicaci\u00f3n) y mediciones del nivel de prote\u00edna MeCP2 apoyar\u00e1n la dosificaci\u00f3n del ASO (Oligonucle\u00f3tido Antisentitario). La reclasificaci\u00f3n para estudios gen\u00e9ticos est\u00e1 en marcha y puede realizarse desde cualquier parte del mundo.<\/li>\n<\/ul>\n\n\n\n
        \n
      • Dra. Mirjana Maletic-Savatic habl\u00f3 sobre los estudios de biomarcadores. Los estudios de descubrimiento de biomarcadores avanzan a buen ritmo y tenemos varios biomarcadores candidatos que difieren entre el SMD, Rett y los individuos sanos. Nuestro objetivo es reducir la lista de biomarcadores candidatos mediante el estudio NHS e identificar uno o dos biomarcadores potentes que puedan reflejar la gravedad de la enfermedad y la respuesta al ASO.<\/li>\n<\/ul>\n\n\n\n
          \n
        • Los doctores Sarika Peters y Jeff Neul hablaron sobre el desarrollo de medidas de resultados. Habr\u00e1 un esfuerzo multic\u00e9ntrico de escala de impresi\u00f3n cl\u00ednica con el objetivo de utilizar dicha escala en el pr\u00f3ximo ensayo cl\u00ednico.<\/li>\n<\/ul>\n\n\n\n
            \n
          • El Dr. Zhenya Ivakine inform\u00f3 sobre un modelo en ratones desarrollado recientemente que expresa tanto MECP2 como IRAK1, con el objetivo de mejorar el modelo animal que se utilizar\u00e1 en los estudios de MDS. El tambi\u00e9n present\u00f3 actualizaci\u00f3n sobre la CRISPR\/Cas9 edici\u00f3n del genoma basada en MDS. Aunque los resultados son alentadores se necesitan m\u00e1s estudios de laboratorio antes de proceder con los estudios en humanos.<\/li>\n<\/ul>\n\n\n\n
              \n
            • 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 podr\u00eda conducir a nuevos tratamientos, pero estos estudios se encuentran en una fase inicial y requieren m\u00e1s trabajo.<\/li>\n<\/ul>\n\n\n\n
                \n
              • Los expertos cl\u00ednicos tambi\u00e9n nos hablaron de problemas comunes (gastrointestinales, epilepsia, infecciones frecuentes, etc.) en los SMD. Dado que la epilepsia es el principal problema que causa regresi\u00f3n en MDS y no existe una orientaci\u00f3n clara sobre la medicaci\u00f3n anticonvulsiva, planeamos lanzar un amplio estudio para identificar el enfoque m\u00e1s beneficioso para el tratamiento dichas convulsiones.<\/li>\n<\/ul>\n\n\n\n

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

                La conferencia familiar bianual se celebr\u00f3 en Houston (Texas, EE.UU.) del 23 al 24 de septiembre de 2022, esta fue organizada por la Prof. Huda Zoghbi del Instituto de Investigaci\u00f3n […]<\/p>","protected":false},"author":2,"featured_media":13136,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[114],"tags":[],"class_list":["post-15080","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noticias"],"yoast_head":"\nResumen de la conferencia familiar de 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\/es\/resumen-de-la-conferencia-americana-de-familias-2022\/?lang=es\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Resumen de la conferencia familiar de 2022 - 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