{"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-i-chiesi-niemcy-podpisuja-strategiczny-sojusz-w-zakresie-chorob-spichrzeniowych-lizosomow","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/centogene-and-chiesi-germany-sign-a-strategic-alliance-in-lysosomal-storage-disorders\/","title":{"rendered":"CENTOGENE i Chiesi Niemcy podpisuj\u0105 strategiczn\u0105 umow\u0119 w zakresie chor\u00f3b spichrzeniowych lizosom\u00f3w"},"content":{"rendered":"<p>CENTOGENE i Chiesi Niemcy og\u0142osi\u0142y dzi\u015b strategiczn\u0105 wsp\u00f3\u0142prac\u0119 w zakresie lizosomalnej choroby spichrzeniowej ze szczeg\u00f3lnym uwzgl\u0119dnieniem alfa-mannozydozy (AM) w Europie, rzadkiej choroby genetycznej dotykaj\u0105cej oko\u0142o 1 na 1 000 000 noworodk\u00f3w.<\/p>\n<p>CENTOGENE przeprowadzi badanie epidemiologiczne skupiaj\u0105ce si\u0119 na analizie cz\u0119sto\u015bci wyst\u0119powania AM, wykonuj\u0105c pe\u0142ne sekwencjonowanie genu MAN2B1, w celu zidentyfikowania mutacji wp\u0142ywaj\u0105cych na funkcj\u0119 genu i prowadz\u0105cych do alfa-mannozydozy. Zgodnie z warunkami umowy, CENTOGENE b\u0119dzie korzysta\u0107 z opatentowanego, zwalidowanego zestawu do pobierania suchych kropli krwi, CentoCard.<sup>\u00ae<\/sup>, w celu pobrania pr\u00f3bek od pacjent\u00f3w podejrzewanych o alfa-mannozydoz\u0119.<\/p>\n<p>AM to niezwykle rzadkie, dziedziczne schorzenie spowodowane brakiem lub nieprawid\u0142owym dzia\u0142aniem alfa-mannozydazy, enzymu bior\u0105cego udzia\u0142 w kom\u00f3rkowym rozk\u0142adzie glikoprotein. D\u0142ugoterminowe rokowanie dla nieleczonych pacjent\u00f3w jest na og\u00f3\u0142 niepomy\u015blne, ze znacznie skr\u00f3con\u0105 oczekiwan\u0105 d\u0142ugo\u015bci\u0105 \u017cycia. Osoby z wczesn\u0105 postaci\u0105 AM cz\u0119sto nie prze\u017cywaj\u0105 okresu dzieci\u0144stwa.<\/p>\n<p>Opracowywanie lek\u00f3w na AZS to jedno z trzech g\u0142\u00f3wnych wskaza\u0144, kt\u00f3rymi Chiesi zajmuje si\u0119 w obszarze chor\u00f3b rzadkich. W marcu 2018 roku Chiesi uzyska\u0142o europejskie pozwolenie na dopuszczenie do obrotu leku do leczenia objaw\u00f3w nieneurologicznych u pacjent\u00f3w z AZS o nasileniu \u0142agodnym do umiarkowanego.<\/p>\n<p>\u201cNasza wsp\u00f3lna wsp\u00f3\u0142praca umacnia nasz\u0105 globaln\u0105 pozycj\u0119 w zakresie przyspieszania wczesnej identyfikacji pacjent\u00f3w z rzadkimi chorobami genetycznymi. Cieszymy si\u0119 z mo\u017cliwo\u015bci wsp\u00f3\u0142pracy z Chiesi, wschodz\u0105cym liderem w terapii alfa-mannozydozy, i dostarczamy cennych informacji epidemiologicznych oraz dotycz\u0105cych rozpowszechnienia tej wyniszczaj\u0105cej choroby\u201d \u2013 powiedzia\u0142 dr Arndt Rolfs, dyrektor generalny i za\u0142o\u017cyciel CENTOGENE.<\/p>\n<p>\u201c\u015awiat chor\u00f3b rzadkich jest niezwykle z\u0142o\u017cony, a dla pacjent\u00f3w i ich rodzin oczekiwanie na diagnoz\u0119 i plan leczenia mo\u017ce by\u0107 niezwykle frustruj\u0105ce i niepewne. Wspieranie CENTOGENE w ich pracy pomo\u017ce zidentyfikowa\u0107 mo\u017cliwo\u015bci wczesnego diagnozowania tej ultrarzadkiej lizosomalnej choroby spichrzeniowej\u201d \u2013 powiedzia\u0142 dr n. med. Raimund H\u00f6velmann, dyrektor medyczny Chiesi Niemcy. \u201cPodobnie jak CENTOGENE, koncentrujemy si\u0119 na chorobach rzadkich i z niecierpliwo\u015bci\u0105 oczekujemy, aby pom\u00f3c pacjentom uzyska\u0107 dost\u0119p do skutecznego leczenia, otrzyma\u0107 opiek\u0119 spo\u0142eczn\u0105 i medyczn\u0105 oraz \u017cy\u0107 pe\u0142ni\u0105 \u017cycia\u201d.\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 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