{"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":"centogene-y-chiesi-alemania-firman-una-alianza-estrategica-en-trastornos-de-almacenamiento-lisosomal","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/es\/centogene-and-chiesi-germany-sign-a-strategic-alliance-in-lysosomal-storage-disorders\/","title":{"rendered":"CENTOGENE y Chiesi Alemania firman una alianza estrat\u00e9gica en trastornos de almacenamiento lisosomal"},"content":{"rendered":"<p>CENTOGENE y Chiesi Alemania anunciaron hoy una colaboraci\u00f3n estrat\u00e9gica en la enfermedad de almacenamiento lisosomal con especial atenci\u00f3n a la alfa manosidosis (AM) en Europa, un trastorno gen\u00e9tico poco com\u00fan que afecta aproximadamente a 1 de cada 1.000.000 de reci\u00e9n nacidos.<\/p>\n<p>CENTOGENE realizar\u00e1 un estudio epidemiol\u00f3gico centrado en el an\u00e1lisis de la prevalencia de la AM, mediante la secuenciaci\u00f3n completa del gen subyacente, MAN2B1, para identificar mutaciones que afecten su funci\u00f3n y provoquen alfa manosidosis. Seg\u00fan los t\u00e9rminos del acuerdo, CENTOGENE utilizar\u00e1 su kit patentado y validado de recolecci\u00f3n de muestras de sangre seca, CentoCard.<sup>\u00ae<\/sup>, para recoger muestras de pacientes sospechosos de padecer alfa manosidosis.<\/p>\n<p>La AM es un trastorno hereditario extremadamente raro causado por la ausencia o el mal funcionamiento de la alfa-manosidasa, una enzima que participa en la degradaci\u00f3n celular de las glicoprote\u00ednas. El pron\u00f3stico a largo plazo para los pacientes no tratados suele ser malo, con una esperanza de vida considerablemente reducida. Las personas con AM de inicio temprano a menudo no sobreviven m\u00e1s all\u00e1 de la infancia.<\/p>\n<p>El desarrollo de tratamientos para la AM es una de las tres indicaciones principales que Chiesi est\u00e1 desarrollando en el \u00e1mbito de las enfermedades raras. En marzo de 2018, Chiesi recibi\u00f3 la autorizaci\u00f3n de comercializaci\u00f3n europea para un medicamento para tratar las manifestaciones no neurol\u00f3gicas en pacientes con AM leve a moderada.<\/p>\n<p>\u201cNuestra colaboraci\u00f3n conjunta refuerza nuestra s\u00f3lida posici\u00f3n global para acelerar la identificaci\u00f3n temprana de pacientes con enfermedades gen\u00e9ticas raras. Agradecemos la oportunidad de trabajar con Chiesi, l\u00edder emergente en el tratamiento de la alfa manosidosis, y aportar valiosos conocimientos epidemiol\u00f3gicos y de prevalencia sobre esta devastadora enfermedad\u201d, declar\u00f3 el Dr. Arndt Rolfs, director ejecutivo y fundador de CENTOGENE.<\/p>\n<p>\u201cEl mundo de las enfermedades raras es incre\u00edblemente complejo, y para los pacientes y sus familias, la espera de un diagn\u00f3stico y un plan de tratamiento posterior puede ser extremadamente frustrante e incierta. Apoyar a CENTOGENE en su labor ayudar\u00e1 a identificar oportunidades para el diagn\u00f3stico temprano de esta enfermedad de dep\u00f3sito lisosomal ultrarrara \u2014afirm\u00f3 el Dr. Raimund H\u00f6velmann, director m\u00e9dico de Chiesi Alemania\u2014. Al igual que CENTOGENE, nos centramos en las enfermedades raras y esperamos ayudar a los pacientes a acceder a un tratamiento eficaz, recibir atenci\u00f3n social y m\u00e9dica y vivir 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 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