{"id":899,"date":"2025-02-27T15:32:22","date_gmt":"2025-02-27T15:32:22","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/?page_id=899"},"modified":"2025-04-07T11:30:00","modified_gmt":"2025-04-07T11:30:00","slug":"analiza-epidemiologiczna-dziedzicznej-choroby-obrzeku-naczynioruchowego-badanie-eha","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/pl\/pharma\/clinical-trial-support\/epidemiological-analysis-for-hereditary-angioedema-disease-eha-study\/","title":{"rendered":"Badanie EHA"},"content":{"rendered":"<section class=\"bloque-banner-titulo-page  estilo-grey\" id=\"\">\r\n    \r\n    <div class=\"image-wrapper\">\r\n\r\n      <!-- include mp4 video on a loop -->\r\n              <img decoding=\"async\" class=\"\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_centogene-pharma-clinical-trails_EHA-header_55006e3c19.webp\" alt=\"csm_centogene-pharma-clinical-trails_EHA-header_55006e3c19\" \/>\r\n          <\/div>\r\n    <div class=\"container content-wrapper\">\r\n      <div class=\"row justify-content-start align-items-center\">\r\n\r\n\r\n        <div class=\"col-12 col-lg-6 animation fadeTop align-self-center\">\r\n                  <h1>Badanie EHA<\/h1>\r\n          <h2 class=\"bl-texto\">Analiza epidemiologiczna w kierunku dziedzicznej choroby obrz\u0119ku naczynioruchowego<\/h2>                            <\/div>\r\n\r\n      <\/div>\r\n    <\/div>\r\n\r\n<\/section>\r\n<div class=\"breadcrumbs\">\r\n    <div class=\"container\">\r\n      <div class=\"row\">\r\n        <div class=\"col-12\">\r\n          <ul id=\"breadcrumbs\" class=\"breadcrumbs\"><li><a href=\"https:\/\/www.centogene.com\/pl\/\">Dom<\/a><\/li><\/ul>        <\/div>\r\n      <\/div>\r\n    <\/div>\r\n<\/div>\r\n\r\n\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:66.66%\">\n<h2 class=\"wp-block-heading\">Streszczenie<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Przegl\u0105d<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Analiza epidemiologiczna dziedzicznego obrz\u0119ku naczynioruchowego (EHA) to mi\u0119dzynarodowe badanie obserwacyjne. G\u0142\u00f3wnym celem badania jest zbadanie cz\u0119sto\u015bci wyst\u0119powania dziedzicznego obrz\u0119ku naczynioruchowego (HAE) w\u015br\u00f3d pacjent\u00f3w z nawracaj\u0105cymi epizodami b\u00f3lu brzucha o nieznanej etiologii. Ponadto badanie ma na celu okre\u015blenie biomarker\u00f3w HAE, kt\u00f3re mog\u0105 potencjalnie u\u0142atwi\u0107 wcze\u015bniejsz\u0105 diagnoz\u0119 i personalizacj\u0119 leczenia w przysz\u0142o\u015bci.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Korzy\u015bci dla uczestnik\u00f3w<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Uczestnicy mog\u0105 otrzyma\u0107 pewn\u0105 diagnoz\u0119 HAE typu 1\/2. Mo\u017ce to mie\u0107 r\u00f3wnie\u017c bezpo\u015bredni wp\u0142yw na rodzin\u0119 os\u00f3b zdiagnozowanych ze wzgl\u0119du na dominuj\u0105cy spos\u00f3b dziedziczenia tej choroby.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">    <section class=\"bloque-personalizado bloque-cajas-imgs estilo-cajasblancas\" >\n        <div class=\"\"> \n                        <div class=\"row justify-content-between\">\n\n                                        \n                <div class=\"swiper-slide col-12 delay-1 caja\">\n                    <div class=\"caja-inner\" >\n                        <a href=\"https:\/\/www.centoportal.com\/\" target=\"_blank\" class=\"\">                        <div class=\"bl-imagen animationNo scalexTop delay-1\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_centogene-pharma-clinical-trials_study-access-teaser-card_7fbd33e2a0-650x400.webp\" class=\"\" alt=\"\" \/> <\/div>                                               \n                        <\/a>                        \n                        <div class=\"caja-text\">\n                            <p class=\"prefijo\">Badania kliniczne<\/p>                            <h3 class=\"bl-titulo\">Dost\u0119p do bada\u0144 na CentoPortal\u00ae dla uczestnicz\u0105cych lekarzy<\/h3>\n                                  \n                                                          <a target=\"_blank\" href=\"https:\/\/www.centoportal.com\/\" class=\"btn btn-primary\">CentoPortal\u00ae<\/a>\n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                                     \n             \n            \n        <\/div>\n    <\/div>  \n<\/section>\n\n\n\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h2 class=\"wp-block-heading\">Uzasadnienie i projekt badania<\/h2>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h3 class=\"wp-block-heading\">Uzasadnienie badania<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">HAE to choroba dziedziczna, autosomalnie dominuj\u0105ca, kt\u00f3ra cz\u0119sto jest niedodiagnozowana lub b\u0142\u0119dnie diagnozowana. Nawracaj\u0105ce napady b\u00f3lu brzucha, kt\u00f3re czasami s\u0105 jedynym objawem choroby, mog\u0105 by\u0107 mylone z innymi schorzeniami, takimi jak zaburzenia psychiczne czy zapalenie wyrostka robaczkowego, co prowadzi do niepotrzebnych zabieg\u00f3w medycznych i chirurgicznych.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Choroba zazwyczaj nie jest diagnozowana a\u017c do p\u00f3\u017anej adolescencji, a u os\u00f3b niezdiagnozowanych mog\u0105 wyst\u0119powa\u0107 cz\u0119ste epizody b\u00f3lu brzucha, kt\u00f3re mog\u0105 negatywnie wp\u0142ywa\u0107 na jako\u015b\u0107 ich \u017cycia. Badanie EHA pomo\u017ce we wczesnym diagnozowaniu takich os\u00f3b, a tym samym zwi\u0119kszy cz\u0119sto\u015b\u0107 wyst\u0119powania HAE. Ponadto analizy biochemiczne przeprowadzone na pr\u00f3bkach z dodatnim wynikiem badania HAE przyczyni\u0105 si\u0119 do rozwoju nowych narz\u0119dzi diagnostycznych HAE.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h3 class=\"wp-block-heading\">Projekt badania<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Uczestnicy spe\u0142niaj\u0105cy kryteria kwalifikacyjne mog\u0105 zosta\u0107 w\u0142\u0105czeni do badania. Od ka\u017cdego uczestnika zostanie pobrana jedna pr\u00f3bka krwi (oko\u0142o 1 ml). Zostanie ona pobrana do\u2026&nbsp;<a href=\"https:\/\/www.centogene.com\/pl\/innovation\/centocard\/\" data-type=\"page\" data-id=\"1453\">CentoCard<sup>\u00ae<\/sup><\/a>, kt\u00f3ry zostanie przes\u0142any do CENTOGENE i przeanalizowany w specjalistycznych laboratoriach CENTOGENE pod k\u0105tem HAE. Proces diagnostyczny sk\u0142ada si\u0119 z dw\u00f3ch etap\u00f3w: w pierwszym etapie bia\u0142ka dope\u0142niacza s\u0105 kwantyfikowane za pomoc\u0105 tandemowej spektrometrii mas, a w drugim etapie wyniki s\u0105 potwierdzane analizami genetycznymi. Wyniki biochemiczne s\u0105 zatem potwierdzane genetycznie za pomoc\u0105 sekwencjonowania nowej generacji.&nbsp;<em>SERPING1<\/em>&nbsp;genu, a w razie konieczno\u015bci przeprowadza si\u0119 amplifikacj\u0119 sondy zale\u017cn\u0105 od ligacji multipleksowej (MLPA) w celu wykrycia du\u017cych delecji lub duplikacji.<br><br>CENTOGENE skontaktuje si\u0119 z lekarzem prowadz\u0105cym badanie, aby poinformowa\u0107 go o wynikach testu. Tylko uczestnicy ze zdiagnozowanym HAE zostan\u0105 poinformowani przez lekarza prowadz\u0105cego badanie. Je\u015bli uczestnik nie zostanie skontaktowany przez o\u015brodek badawczy w ci\u0105gu jednego miesi\u0105ca, wyniki mog\u0105 zosta\u0107 uznane za negatywne.<\/p>\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:66.66%\">\n<h2 class=\"wp-block-heading\">Informacje o badaniu<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Projekt:<\/strong>&nbsp;Mi\u0119dzynarodowe, wieloo\u015brodkowe, epidemiologiczne badanie obserwacyjne<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Populacja badana:<\/strong>&nbsp;Osoby, u kt\u00f3rych w przesz\u0142o\u015bci wyst\u0119powa\u0142y ataki b\u00f3lu brzucha bez wyra\u017anej etiologii<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Liczba uczestnik\u00f3w:&nbsp;<\/strong>5000 uczestnik\u00f3w<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Pierwszy uczestnik:<\/strong>&nbsp;Wrzesie\u0144 2018<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Ostatni uczestnik:&nbsp;<\/strong>Czerwiec 2022<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Okres w\u0142\u0105czenia:<\/strong>&nbsp;48 miesi\u0119cy<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Cele:<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Podstawowy<\/strong>&nbsp;\u2013 Zbadanie cz\u0119sto\u015bci wyst\u0119powania HAE u os\u00f3b z wcze\u015bniejszymi epizodami b\u00f3lu brzucha bez oczywistej etiologii<br><strong>Wt\u00f3rny<\/strong>&nbsp;\u2013 W celu ustalenia biomarkera w kohorcie z dodatnim wynikiem HAE<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><br>Dowiedz si\u0119, jak mo\u017cesz wzi\u0105\u0107 udzia\u0142:&nbsp;<a href=\"https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03558009?recrs=a&amp;type=Obsr&amp;cond=HAE&amp;rank=5\" target=\"_blank\" rel=\"noreferrer noopener\">ClinicalTrials.gov&nbsp;<\/a>&nbsp;|&nbsp;&nbsp;<strong>Rekrutacja zosta\u0142a zamkni\u0119ta.<\/strong><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Kryteria w\u0142\u0105czenia<\/h2>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>Kryteria w\u0142\u0105czenia<\/th><\/tr><\/thead><tbody><tr><td>Uczestnik lub rodzic\/opiekun prawny wyra\u017ca \u015bwiadom\u0105 zgod\u0119<\/td><\/tr><tr><td>U uczestnika wyst\u0119powa\u0142y wcze\u015bniej epizody b\u00f3lu brzucha bez wyra\u017anej etiologii<\/td><\/tr><tr><td>Uczestnicy w wieku od 2 do 60 lat<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">Zakres geograficzny<\/h2>\n\n\n\n<figure class=\"wp-block-image size-full imgshadow\"><img loading=\"lazy\" decoding=\"async\" width=\"1293\" height=\"701\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/centogene_clinical_studies_global_patient_studies_200506-EHA-study-map.webp\" alt=\"\" class=\"wp-image-897\" srcset=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/centogene_clinical_studies_global_patient_studies_200506-EHA-study-map.webp 1293w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/centogene_clinical_studies_global_patient_studies_200506-EHA-study-map-1024x555.webp 1024w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/centogene_clinical_studies_global_patient_studies_200506-EHA-study-map-768x416.webp 768w\" sizes=\"auto, (max-width: 1293px) 100vw, 1293px\" \/><\/figure>\n\n\n\n<p class=\"has-small-font-size wp-block-paragraph\">Przegl\u0105d kraj\u00f3w bior\u0105cych udzia\u0142 w badaniu EHA. Kropki oznaczaj\u0105 siedzib\u0119 g\u0142\u00f3wn\u0105 CENTOGENE GmbH (Rostock, Niemcy). (\u00a9 Wsp\u00f3\u0142tw\u00f3rcy OpenStreetMap)<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Badanie EHA prowadzone jest w Meksyku, Niemczech, W\u0142oszech, Turcji, Polsce i Japonii.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Fakty dotycz\u0105ce choroby HAE<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dziedziczna choroba charakteryzuj\u0105ca si\u0119 obrz\u0119kiem naczynioruchowym wywo\u0142anym bradykinin\u0105<\/li>\n\n\n\n<li class=\"translation-block\">Choroba dziedziczona autosomalnie dominuj\u0105co, spowodowana g\u0142\u00f3wnie mutacjami w genie <em>SERPING1<\/em> , koduj\u0105cym bia\u0142ko inhibitora esterazy C1 (C1-INH) w osoczu<\/li>\n\n\n\n<li>Opublikowana cz\u0119sto\u015b\u0107 wyst\u0119powania waha si\u0119 od 1:10 000 do 1:50 000<\/li>\n\n\n\n<li>U 93% pacjent\u00f3w z HAE wyst\u0119puje nawracaj\u0105cy b\u00f3l brzucha spowodowany obrz\u0119kiem przewodu pokarmowego, kt\u00f3ry mo\u017ce by\u0107 jedynym objawem choroby<\/li>\n\n\n\n<li>U os\u00f3b z objawami \u017co\u0142\u0105dkowo-jelitowymi rzadko podejrzewa si\u0119 HAE i \u015brednio przez osiem lat mo\u017ce by\u0107 stawiana b\u0142\u0119dna diagnoza<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\n<p class=\"wp-block-paragraph\"><\/p>\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n  <section class=\"bloque-personalizado bloque-contact-info\" >     \n    <h2 class=\"mt-3 mb-5\"> Skontaktuj si\u0119 z EHA Study<\/h2>   \n    <div class=\"row justify-content-center bordesverticales\"> \n        <div class=\"bl-texto col-12 col-md-3\">\n         <h5 class=\"mt-0\">Aby uzyska\u0107 wi\u0119cej informacji, skontaktuj si\u0119 z nami<\/h5>\n<p><strong>Dr Anika Knaust, badaczka bada\u0144 klinicznych<\/strong><br \/>\nCENTOGENE GmbH<br \/>\nNa pla\u017cy 7<br \/>\n18055 Rostock<br \/>\nNiemcy<br \/>\nAdres e-mail: Anika.Knaust@centogene.com<\/p>\n<hr \/>\n<p><strong>Limor Oren, wsp\u00f3\u0142pracownik ds. bada\u0144 klinicznych<\/strong><br \/>\nCENTOGENE GmbH<br \/>\nNa pla\u017cy 7<br \/>\n18055 Rostock<br \/>\nNiemcy<br \/>\nAdres e-mail: limor.oren@centogene.com<\/p>\n        <\/div>\n        <div class=\"bl-texto  col-12 col-md-2\">\n          \n        <\/div>\n        <div class=\"bl-texto  col-12 col-md-3\">\n          <h5 class=\"mt-0\">Badania kliniczne<\/h5>\n<h4 class=\"translation-block\">Dost\u0119p do bada\u0144 na CentoPortal <sup>\u00ae<\/sup> dla uczestnicz\u0105cych lekarzy<\/h4>\n<p><a class=\"btn btn-primary\" title=\"CentoPortal\" href=\"https:\/\/login.centoportal.com\/\" target=\"_blank\" rel=\"noopener noreferrer\">CentoPortal<\/a><\/p>\n        <\/div>\n    <\/div>\n  <\/section>  \n\n  \n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>","protected":false},"excerpt":{"rendered":"","protected":false},"author":2,"featured_media":0,"parent":1078,"menu_order":50,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-899","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>EHA Study | CENTOGENE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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