{"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":"a-centogene-firma-nova-colaboracao-com-a-ptc-therapeutics-para-programa-global-de-testes-diagnosticos","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pt\/centogene-signs-new-collaboration-with-ptc-therapeutics-for-global-diagnostic-testing-program\/","title":{"rendered":"A CENTOGENE firma nova colabora\u00e7\u00e3o com a PTC Therapeutics para programa global de testes diagn\u00f3sticos."},"content":{"rendered":"<p>Cambridge, MA, EUA e Rostock, Berlim, ALEMANHA, 18 de novembro de 2019 \u2013 A Centogene NV (NASDAQ: CNTG), uma empresa em fase comercial focada em doen\u00e7as raras que transforma dados cl\u00ednicos e gen\u00e9ticos do mundo real em informa\u00e7\u00f5es acion\u00e1veis para pacientes, m\u00e9dicos e empresas farmac\u00eauticas, anunciou a assinatura de um acordo com a PTC Therapeutics, Inc. (PTC) para um programa de diagn\u00f3stico global para defici\u00eancia de descarboxilase de amino\u00e1cidos arom\u00e1ticos L (AADC).<\/p>\n<p>O programa de testes para defici\u00eancia de AADC fornecer\u00e1 aos m\u00e9dicos a an\u00e1lise t\u00e3o necess\u00e1ria de 3-O-metildopa (3OMD), um importante biomarcador metab\u00f3lico medido por espectrometria de massa. Quando indicado por n\u00edveis anormais de 3OMD, ser\u00e1 realizado o sequenciamento de nova gera\u00e7\u00e3o (NGS) do gene da dopa descarboxilase (DDC) e a an\u00e1lise de variantes \u2013 com cobertura de 100%. Posteriormente, ser\u00e1 realizada uma an\u00e1lise de dele\u00e7\u00e3o\/duplica\u00e7\u00e3o caso nenhuma muta\u00e7\u00e3o seja identificada pelo NGS.<\/p>\n<p>A an\u00e1lise ser\u00e1 realizada utilizando o CentoCard\u00ae \u2013 o kit de coleta de sangue seco em papel filtro da CENTOGENE com marca\u00e7\u00e3o CE \u2013 que ser\u00e1 enviado diretamente aos m\u00e9dicos. A CENTOGENE tamb\u00e9m est\u00e1 em processo de valida\u00e7\u00e3o da atividade da enzima DDC em papel filtro e, com isso, pretende oferecer testes de 3OMD, NGS e atividade da enzima DDC utilizando um \u00fanico CentoCard\u00ae. Isso representa um conjunto completo de ensaios que facilitam o diagn\u00f3stico de AADC.<\/p>\n<p>\u201cTemos o prazer de apoiar a PTC Therapeutics neste importante programa de diagn\u00f3stico que auxilia pacientes que sofrem de sintomas relacionados \u00e0 defici\u00eancia de AADC. Nosso objetivo \u00e9 fornecer aos m\u00e9dicos um diagn\u00f3stico consensual que inclua um biomarcador e valida\u00e7\u00e3o gen\u00e9tica de uma \u00fanica fonte\u201d, disse o Dr. Arndt Rolfs, CEO da CENTOGENE. \u201cA an\u00e1lise de 3-O-metildopa (3OMD) baseada em nosso teste de amostra de sangue seco na CENTOGENE refor\u00e7a nossa paix\u00e3o por ajudar a reduzir o processo diagn\u00f3stico e por trazer esperan\u00e7a aos pacientes e suas fam\u00edlias.\u201d<\/p>\n<p>A defici\u00eancia de AADC \u00e9 uma doen\u00e7a heredit\u00e1ria rara que afeta a forma como os sinais s\u00e3o transmitidos entre certas c\u00e9lulas do sistema nervoso. Ela causa graves defici\u00eancias de desenvolvimento, incapacidade de desenvolver for\u00e7a e controle motor, hospitaliza\u00e7\u00f5es frequentes e a necessidade de cuidados ao longo da vida.<\/p>\n<p>Quest\u00f5es relativas aos testes de diagn\u00f3stico para defici\u00eancia de AADC podem ser encaminhadas para <a href=\"mailto:AADCDtesting@ptcbio.com\" title=\"Escreva um e-mail\">AADCDtesting@ptcbio.com<\/a> Para obter mais informa\u00e7\u00f5es sobre a defici\u00eancia de AADC, visite os seguintes sites:<\/p>\n<ul>\n<li><a class=\"btn btn-secondary btn-sm\" href=\"https:\/\/aadcinsights.com\" target=\"_blank\" title=\"Profissionais de sa\u00fade\">Profissionais de sa\u00fade&nbsp;<\/a>&nbsp;<a class=\"btn btn-secondary btn-sm\" href=\"https:\/\/aboutaadc.com\" target=\"_blank\" title=\"Cuidadores ou pacientes\">Cuidadores ou 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\/pt\/a-centogene-firma-nova-colaboracao-com-a-ptc-therapeutics-para-programa-global-de-testes-diagnosticos\/\" \/>\n<meta property=\"og:locale\" content=\"pt_BR\" \/>\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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