{"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-podpisuje-nowa-wspolprace-z-ptc-therapics-w-ramach-globalnego-programu-badan-diagnostycznych","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/centogene-signs-new-collaboration-with-ptc-therapeutics-for-global-diagnostic-testing-program\/","title":{"rendered":"CENTOGENE podpisuje now\u0105 wsp\u00f3\u0142prac\u0119 z PTC Therapeutics w ramach globalnego programu bada\u0144 diagnostycznych"},"content":{"rendered":"<p>Cambridge, MA, USA i Rostock, Berlin, NIEMCY, 18 listopada 2019 r. \u2013 Centogene NV (NASDAQ: CNTG), sp\u00f3\u0142ka komercyjna skupiaj\u0105ca si\u0119 na rzadkich chorobach, kt\u00f3ra przetwarza rzeczywiste dane kliniczne i genetyczne w u\u017cyteczne informacje dla pacjent\u00f3w, lekarzy i firm farmaceutycznych, og\u0142osi\u0142a podpisanie umowy z PTC Therapeutics, Inc. (PTC) na globalny program diagnostyczny niedoboru dekarboksylazy aromatycznych L-aminokwas\u00f3w (AADC).<\/p>\n<p>Program bada\u0144 niedoboru AADC zapewni lekarzom bardzo potrzebn\u0105 analiz\u0119 3-O-metylodopy (3OMD), silnego biomarkera metabolicznego mierzonego spektrometri\u0105 mas. W przypadku wykrycia nieprawid\u0142owych poziom\u00f3w 3OMD, przeprowadzone zostanie sekwencjonowanie nowej generacji (NGS) genu dekarboksylazy dopa (DDC) i analiza wariant\u00f3w, zapewniaj\u0105ca pokrycie 100%. Ostatecznie, je\u015bli za pomoc\u0105 NGS nie zostanie zidentyfikowana \u017cadna mutacja, przeprowadzona zostanie analiza delecji\/duplikacji.<\/p>\n<p>Analiza zostanie przeprowadzona przy u\u017cyciu zestawu CentoCard\u00ae \u2013 zestawu do pobierania suchych kropli krwi firmy CENTOGENE, posiadaj\u0105cego certyfikat CE \u2013 kt\u00f3ry zostanie wys\u0142any bezpo\u015brednio do lekarzy. Firma CENTOGENE jest r\u00f3wnie\u017c w trakcie walidacji aktywno\u015bci enzymu DDC z suchych kropli krwi i w ten spos\u00f3b zamierza oferowa\u0107 testy 3OMD, NGS i aktywno\u015bci enzymu DDC przy u\u017cyciu jednej karty CentoCard\u00ae. Stanowi to kompletny zestaw test\u00f3w u\u0142atwiaj\u0105cych diagnostyk\u0119 AADC.<\/p>\n<p>\u201cZ przyjemno\u015bci\u0105 wspieramy firm\u0119 PTC Therapeutics w tym wa\u017cnym programie diagnostycznym, kt\u00f3ry pomaga pacjentom cierpi\u0105cym na objawy zwi\u0105zane z niedoborem AADC. Naszym celem jest zapewnienie lekarzom diagnozy zgodnej z konsensusem, obejmuj\u0105cej biomarker i walidacj\u0119 genetyczn\u0105 z jednego \u017ar\u00f3d\u0142a\u201d \u2013 powiedzia\u0142 dr Arndt Rolfs, dyrektor generalny CENTOGENE. \u201cAnaliza 3-O-metylodopy (3OMD) oparta na naszym te\u015bcie suchej kropli krwi w CENTOGENE podkre\u015bla nasz\u0105 pasj\u0119 do skracania czasu po\u015bwi\u0119conego na diagnoz\u0119 i dawania nadziei pacjentom i ich rodzinom\u201d.\u201d<\/p>\n<p>Niedob\u00f3r AADC to rzadkie dziedziczne zaburzenie, kt\u00f3re wp\u0142ywa na spos\u00f3b przekazywania sygna\u0142\u00f3w mi\u0119dzy niekt\u00f3rymi kom\u00f3rkami uk\u0142adu nerwowego. Powoduje powa\u017cne zaburzenia rozwojowe, niezdolno\u015b\u0107 do rozwini\u0119cia jakiejkolwiek si\u0142y motorycznej i kontroli, cz\u0119ste hospitalizacje oraz konieczno\u015b\u0107 do\u017cywotniej opieki.<\/p>\n<p>Pytania dotycz\u0105ce bada\u0144 diagnostycznych w kierunku niedoboru AADC mo\u017cna kierowa\u0107 do: <a href=\"mailto:AADCDtesting@ptcbio.com\" title=\"Napisz e-mail\">AADCDtesting@ptcbio.com<\/a> Wi\u0119cej informacji na temat niedoboru AADC mo\u017cna znale\u017a\u0107 na nast\u0119puj\u0105cych stronach internetowych:<\/p>\n<ul>\n<li><a class=\"btn btn-secondary btn-sm\" href=\"https:\/\/aadcinsights.com\" target=\"_blank\" title=\"Profesjonali\u015bci z zakresu opieki zdrowotnej\">Profesjonali\u015bci z zakresu opieki zdrowotnej&nbsp;<\/a>&nbsp;<a class=\"btn btn-secondary btn-sm\" href=\"https:\/\/aboutaadc.com\" target=\"_blank\" title=\"Opiekunowie lub pacjenci\">Opiekunowie lub pacjenci<\/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\/pl\/centogene-podpisuje-nowa-wspolprace-z-ptc-therapics-w-ramach-globalnego-programu-badan-diagnostycznych\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\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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