{"id":2399,"date":"2018-12-07T00:00:00","date_gmt":"2018-12-07T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2399"},"modified":"2018-12-07T00:00:00","modified_gmt":"2018-12-07T00:00:00","slug":"a-centogene-e-a-chiesi-germany-assinam-uma-alianca-estrategica-em-doencas-de-armazenamento-lisossomico","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pt\/centogene-and-chiesi-germany-sign-a-strategic-alliance-in-lysosomal-storage-disorders\/","title":{"rendered":"A CENTOGENE e a Chiesi Germany assinam uma alian\u00e7a estrat\u00e9gica em doen\u00e7as de armazenamento lisoss\u00f4mico."},"content":{"rendered":"<p>A CENTOGENE e a Chiesi Germany anunciaram hoje uma colabora\u00e7\u00e3o estrat\u00e9gica em doen\u00e7as de armazenamento lisoss\u00f4mico, com foco especial na alfa-manosidose (AM) na Europa, uma doen\u00e7a gen\u00e9tica rara que afeta aproximadamente 1 em cada 1.000.000 de rec\u00e9m-nascidos.<\/p>\n<p>A CENTOGENE realizar\u00e1 um estudo epidemiol\u00f3gico com foco na an\u00e1lise da preval\u00eancia de AM, realizando o sequenciamento completo do gene subjacente, MAN2B1, para identificar muta\u00e7\u00f5es que afetam a fun\u00e7\u00e3o do gene e levam \u00e0 alfa-manosidose. Nos termos do acordo, a CENTOGENE utilizar\u00e1 seu kit propriet\u00e1rio e validado para coleta de sangue seco em papel filtro, o CentoCard.<sup>\u00ae<\/sup>, para coletar amostras de pacientes com suspeita de sofrerem de alfa-manosidose.<\/p>\n<p>A AM \u00e9 uma doen\u00e7a heredit\u00e1ria ultrarrara causada pela aus\u00eancia ou mau funcionamento da alfa-manosidase, uma enzima envolvida na degrada\u00e7\u00e3o celular de glicoprote\u00ednas. O progn\u00f3stico a longo prazo para pacientes n\u00e3o tratados \u00e9 geralmente ruim, com redu\u00e7\u00e3o dr\u00e1stica da expectativa de vida. Indiv\u00edduos com a forma de in\u00edcio precoce da AM frequentemente n\u00e3o sobrevivem \u00e0 inf\u00e2ncia.<\/p>\n<p>O desenvolvimento de tratamentos para a amioformidade (AM) \u00e9 uma das tr\u00eas principais indica\u00e7\u00f5es que a Chiesi est\u00e1 buscando na \u00e1rea de doen\u00e7as raras. Em mar\u00e7o de 2018, a Chiesi recebeu autoriza\u00e7\u00e3o de comercializa\u00e7\u00e3o na Europa para um medicamento destinado ao tratamento de manifesta\u00e7\u00f5es n\u00e3o neurol\u00f3gicas em pacientes com AM leve a moderada.<\/p>\n<p>\u201cNossa colabora\u00e7\u00e3o conjunta refor\u00e7a nossa posi\u00e7\u00e3o globalmente consolidada para acelerar a identifica\u00e7\u00e3o precoce de pacientes com doen\u00e7as gen\u00e9ticas raras. Aproveitamos a oportunidade para trabalhar com a Chiesi, l\u00edder emergente no tratamento da alfa-manosidose, e fornecer informa\u00e7\u00f5es epidemiol\u00f3gicas e de preval\u00eancia valiosas sobre essa condi\u00e7\u00e3o devastadora\u201d, disse o Dr. Arndt Rolfs, CEO e fundador da CENTOGENE.<\/p>\n<p>\u201cO mundo das doen\u00e7as raras \u00e9 incrivelmente complexo e, para os pacientes e suas fam\u00edlias que aguardam um diagn\u00f3stico e um plano de tratamento subsequente, pode ser extremamente frustrante e incerto. Apoiar a CENTOGENE em seu trabalho ajudar\u00e1 a identificar oportunidades para o diagn\u00f3stico precoce desta doen\u00e7a de armazenamento lisoss\u00f4mico ultrarrara\u201d, disse o Dr. Raimund H\u00f6velmann, Diretor M\u00e9dico da Chiesi Alemanha. \u201cAssim como a CENTOGENE, estamos focados em doen\u00e7as raras e esperamos ajudar os pacientes a terem acesso a tratamentos eficazes, receberem cuidados m\u00e9dicos e sociais e viverem suas vidas plenamente.\u201d<\/p>","protected":false},"excerpt":{"rendered":"<p>\u00ad\u00adCENTOGENE and Chiesi Germany today announced a strategic collaboration in lysosomal storage disease with special focus on Alpha Mannosidosis (AM) [&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-2399","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 and Chiesi Germany sign a strategic alliance in lysosomal storage disorders | 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-e-a-chiesi-germany-assinam-uma-alianca-estrategica-em-doencas-de-armazenamento-lisossomico\/\" \/>\n<meta property=\"og:locale\" content=\"pt_BR\" \/>\n<meta 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