{"id":2374,"date":"2019-11-18T00:00:00","date_gmt":"2019-11-18T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2374"},"modified":"2019-11-18T00:00:00","modified_gmt":"2019-11-18T00:00:00","slug":"centogene-firma-una-nueva-colaboracion-con-ptc-therapy-para-un-programa-global-de-pruebas-de-diagnostico","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/es\/centogene-signs-new-collaboration-with-ptc-therapeutics-for-global-diagnostic-testing-program\/","title":{"rendered":"CENTOGENE firma una nueva colaboraci\u00f3n con PTC Therapeutics para un programa global de pruebas de diagn\u00f3stico"},"content":{"rendered":"<p>Cambridge, MA, EE. UU. y Rostock, Berl\u00edn, ALEMANIA, 18 de noviembre de 2019 \u2013 Centogene NV (NASDAQ: CNTG), una empresa en fase comercial centrada en enfermedades raras que transforma datos cl\u00ednicos y gen\u00e9ticos del mundo real en informaci\u00f3n \u00fatil para pacientes, m\u00e9dicos y compa\u00f1\u00edas farmac\u00e9uticas, anunci\u00f3 que ha firmado un acuerdo con PTC Therapeutics, Inc. (PTC) para un programa de diagn\u00f3stico global para la deficiencia de L-amino\u00e1cido descarboxilasa arom\u00e1tica (AADC).<\/p>\n<p>El programa de pruebas para la deficiencia de AADC proporcionar\u00e1 a los m\u00e9dicos el an\u00e1lisis tan necesario de 3-O-metildopa (3OMD), un potente biomarcador metab\u00f3lico medido por espectrometr\u00eda de masas. Cuando se detecten niveles anormales de 3OMD, se realizar\u00e1 la secuenciaci\u00f3n de nueva generaci\u00f3n (NGS) del gen de la dopa descarboxilasa (DDC) y el an\u00e1lisis de variantes, lo que proporcionar\u00e1 cobertura para 100%. Finalmente, se realizar\u00e1 un an\u00e1lisis de deleci\u00f3n\/duplicaci\u00f3n si no se identifica ninguna mutaci\u00f3n mediante NGS.<\/p>\n<p>El an\u00e1lisis se realizar\u00e1 con CentoCard\u00ae, el kit de recolecci\u00f3n de muestras de sangre seca de CENTOGENE con marcado CE, que se enviar\u00e1 directamente a los m\u00e9dicos. CENTOGENE tambi\u00e9n est\u00e1 validando la actividad enzim\u00e1tica de DDC a partir de muestras de sangre seca y, con ello, pretende ofrecer pruebas de actividad enzim\u00e1tica 3OMD, NGS y DDC con una sola CentoCard\u00ae. Esto representa un conjunto completo de ensayos que facilita el diagn\u00f3stico de AADC.<\/p>\n<p>\u201cNos complace apoyar a PTC Therapeutics en este importante programa de diagn\u00f3stico que ayuda a pacientes con s\u00edntomas relacionados con la deficiencia de AADC. Nuestro objetivo es proporcionar a los m\u00e9dicos un diagn\u00f3stico consensuado que incluya un biomarcador y validaci\u00f3n gen\u00e9tica de una sola fuente\u201d, afirm\u00f3 el Dr. Arndt Rolfs, director ejecutivo de CENTOGENE. \u201cEl an\u00e1lisis de 3-O-metildopa (3OMD) basado en nuestra prueba de gota de sangre seca en CENTOGENE subraya nuestra pasi\u00f3n por ayudar a reducir la complejidad del diagn\u00f3stico y brindar esperanza a los pacientes y sus familias\u201d.\u201d<\/p>\n<p>La deficiencia de AADC es un trastorno hereditario poco com\u00fan que afecta la transmisi\u00f3n de se\u00f1ales entre ciertas c\u00e9lulas del sistema nervioso. Provoca graves discapacidades del desarrollo, incapacidad para desarrollar fuerza y control motor, hospitalizaciones frecuentes y la necesidad de cuidados de por vida.<\/p>\n<p>Las preguntas sobre las pruebas de diagn\u00f3stico para la deficiencia de AADC se pueden dirigir a <a href=\"mailto:AADCDtesting@ptcbio.com\" title=\"Escribe un correo electr\u00f3nico\">AADCDtesting@ptcbio.com<\/a> Para obtener m\u00e1s informaci\u00f3n sobre la deficiencia de AADC, visite los siguientes sitios web:<\/p>\n<ul>\n<li><a class=\"btn btn-secondary btn-sm\" href=\"https:\/\/aadcinsights.com\" target=\"_blank\" title=\"Profesionales de la salud\">Profesionales de la salud&nbsp;<\/a>&nbsp;<a class=\"btn btn-secondary btn-sm\" href=\"https:\/\/aboutaadc.com\" target=\"_blank\" title=\"Cuidadores o pacientes\">Cuidadores o pacientes<\/a><\/li>\n<\/ul>","protected":false},"excerpt":{"rendered":"<p>Cambridge, MA, USA &amp; Rostock, Berlin, GERMANY, 18 November 2019 \u2013 Centogene N.V. (NASDAQ: CNTG), &nbsp;a commercial-stage company focused on [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2374","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>CENTOGENE Signs New Collaboration with PTC Therapeutics for Global Diagnostic Testing Program | CENTOGENE<\/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:\/\/www.centogene.com\/es\/centogene-firma-una-nueva-colaboracion-con-ptc-therapy-para-un-programa-global-de-pruebas-de-diagnostico\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CENTOGENE Signs New Collaboration with PTC Therapeutics for Global Diagnostic Testing Program | CENTOGENE\" \/>\n<meta property=\"og:description\" content=\"Cambridge, MA, USA &amp; Rostock, Berlin, GERMANY, 18 November 2019 \u2013 Centogene N.V. 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