{"id":3512,"date":"2025-04-04T09:20:41","date_gmt":"2025-04-04T06:20:41","guid":{"rendered":"https:\/\/dmdwarrior.com\/?p=3512"},"modified":"2025-04-04T09:24:54","modified_gmt":"2025-04-04T06:24:54","slug":"genethon-ceo-frederic-revah-announces-gnt0004-gene-therapy-will-provide-amazing-results-for-dmd-duchenne-muscular-dystrophy","status":"publish","type":"post","link":"https:\/\/dmdwarrior.com\/tr\/genethon-ceo-frederic-revah-announces-gnt0004-gene-therapy-will-provide-amazing-results-for-dmd-duchenne-muscular-dystrophy\/","title":{"rendered":"Genethon CEO&#039;su Frederic Revah, GNT0004 Gen Terapisinin DMD (Duchenne Musk\u00fcler Distrofi) \u0130\u00e7in Muhte\u015fem Sonu\u00e7lar Sa\u011flayaca\u011f\u0131n\u0131 Duyurdu"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Genethon \u0130cra Kurulu Ba\u015fkan\u0131 Frederic Revah, AFM-Telethon&#039;nin YouTube kanal\u0131nda, \u015fu anda klinik denemeleri devam eden GNT0004 gen terapisinin Duchenne kas distrofisi (DMD) hastalar\u0131nda ola\u011fan\u00fcst\u00fc sonu\u00e7lar \u00fcretece\u011fini duyurdu.<\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\n<iframe title=\"Duchenne Musk\u00fcler Distrofisini tersine \u00e7evirebilen bir gen terapisi olan GNT0004\" width=\"696\" height=\"392\" src=\"https:\/\/www.youtube.com\/embed\/YtTXLbL3cI0?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe>\n<\/div><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">Genethon CEO&#039;su Frederic Revah&#039;\u0131n Konu\u015fmas\u0131n\u0131n Metni<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Merhaba, ben Frederic Revah. Genethon&#039;nin CEO&#039;suyum.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Genethon gen terapisinde \u00f6nc\u00fc bir kurulu\u015ftur. Biz bir Ar-Ge kurulu\u015fuyuz<br>Nadir hastal\u0131klardan etkilenen hastalara Gen terapileri sunmaya adanm\u0131\u015ft\u0131r. 1990 y\u0131l\u0131nda bir hasta \u00f6rg\u00fct\u00fc olan Frans\u0131z Kas Distrofisi Derne\u011fi, AFM-Telethon taraf\u0131ndan kurulduk. 1997&#039;den beri gen terapisiyle ilgileniyoruz ve bu alandaki ilk akt\u00f6rlerden biriyiz.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Zamanla klinikte ilgi \u00e7ekici bir \u00fcr\u00fcn hatt\u0131 geli\u015ftirdik. Bug\u00fcn ara\u015ft\u0131rmalar\u0131m\u0131zdan kaynaklanan klinik denemede 13 \u00fcr\u00fcn bulunmaktad\u0131r.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">N\u00f6rom\u00fcsk\u00fcler hastal\u0131klar, karaci\u011fer bozukluklar\u0131, g\u00f6z bozukluklar\u0131, ba\u011f\u0131\u015f\u0131kl\u0131k yetersizlikleri i\u00e7in \u00fcr\u00fcnler. Geli\u015ftirdi\u011fimiz t\u00fcm bu terapiler aileler i\u00e7in g\u00fc\u00e7l\u00fc bir umut te\u015fkil ediyor ve hastalar\u0131n hayatlar\u0131n\u0131 \u00f6nemli \u00f6l\u00e7\u00fcde iyile\u015ftiriyor.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">En \u00e7arp\u0131c\u0131 \u00f6rneklerden biri, n\u00f6rom\u00fcsk\u00fcler hastal\u0131klar i\u00e7in ilk gen tedavisi olan ve bug\u00fcn d\u00fcnya \u00e7ap\u0131nda pazarlanan, Genethon&#039;nin bilimine ve patentlerine dayanan spinal musk\u00fcler atrofi i\u00e7in gen tedavisidir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bug\u00fcn size Duchenne Musk\u00fcler Distrofi i\u00e7in geli\u015ftirdi\u011fimiz benzersiz terapiden bahsetmek istiyorum. Bu \u00fcr\u00fcn, GNT0004, Duchenne hastalar\u0131ndaki hastal\u0131\u011f\u0131 tersine \u00e7evirme potansiyeline sahiptir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Duchenne, geri d\u00f6nd\u00fcr\u00fclemez kas dejenerasyonlar\u0131na neden olan y\u0131k\u0131c\u0131 bir hastal\u0131kt\u0131r. Y\u00fcr\u00fcme ve ard\u0131ndan nefes alma yeteneklerini kademeli olarak kaybeden erkek \u00e7ocuklar\u0131n\u0131 etkiler. Bu \u00e7ocuklar 12 ya\u015f\u0131ndan sonra y\u00fcr\u00fcmeyi b\u0131rak\u0131r ve daha sonra giderek zay\u0131flarlar. \u00c7o\u011fu 20 ya\u015f\u0131na kadar \u00f6l\u00fcr.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Duchenne, \u015fimdiye kadar ele ald\u0131\u011f\u0131m\u0131z en karma\u015f\u0131k hastal\u0131kt\u0131r. Amac\u0131m\u0131z hastalardaki eksik Distrofin Genini de\u011fi\u015ftirmektir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bu gen, bir gen terapisi vekt\u00f6r\u00fcne s\u0131\u011fmayacak kadar b\u00fcy\u00fck. Bu nedenle, ebeveyn geninin i\u015flevsel ve biyolojik \u00f6zelliklerini koruyan ve bir vekt\u00f6re s\u0131\u011fabilen, k\u00fc\u00e7\u00fclt\u00fclm\u00fc\u015f ancak i\u015flevsel bir mikrodistrofin gen formu tasarlamak zorunda kald\u0131k.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bunu Londra&#039;da distrofin biyolojisi alan\u0131nda d\u00fcnyan\u0131n \u00f6nde gelen uzmanlar\u0131ndan biri olan Profes\u00f6r George Dickson ile yapt\u0131k.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bu mikrodistrofin genini \u00e7ok g\u00fcvenli bir AAV Vekt\u00f6r\u00fc ile birle\u015ftirdik.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0130lk klinik \u00f6ncesi \u00e7al\u0131\u015fmalarda, bu \u00fcr\u00fcn \u00e7ok g\u00fc\u00e7l\u00fc bir etkinlikle muhte\u015fem sonu\u00e7lar g\u00f6sterdi. Dahas\u0131, bu etki uzun s\u00fcrelidir ve bug\u00fcn tek bir enjeksiyondan sonra k\u00f6peklerde 10 y\u0131la kadar hastal\u0131ktan korunma g\u00f6rd\u00fck.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Peki GNT0004 Gen Terapisi konusunda ne durumday\u0131z?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u00dcr\u00fcn art\u0131k ilk klinik a\u015famadan sonra \u00fc\u00e7\u00fcnc\u00fc a\u015famaya girmeye haz\u0131r. Tedavi edilen ilk hastalarda g\u00f6rd\u00fc\u011f\u00fcm\u00fcz sonu\u00e7lar muhte\u015fem.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Tedavi edilen hastalar, do\u011fal tarih \u00e7al\u0131\u015fmam\u0131zda tedavi edilmeyen hastalara g\u00f6re \u00e7ok daha y\u00fcksek bir klinik skor g\u00f6steriyor. Ve bu klinik skor asl\u0131nda y\u00fcr\u00fcme, ayakta durma, merdiven \u00e7\u0131kma yetenekleri anlam\u0131na geliyor.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Tedavi g\u00f6ren hastalarda puan\u0131n korundu\u011fu, tedavi g\u00f6rmeyen hastalarda ise puan\u0131n ciddi oranda d\u00fc\u015ft\u00fc\u011f\u00fc g\u00f6r\u00fclmektedir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Burada d\u00fc\u015f\u00fck doz kulland\u0131\u011f\u0131m\u0131z\u0131 vurgulamak istiyorum. Gen terapisinde g\u00fcvenlik a\u00e7\u0131s\u0131ndan dozun ne kadar \u00f6nemli oldu\u011funu biliyoruz.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bu klinik sonu\u00e7lar\u0131n hastalar\u0131n kaslar\u0131nda terap\u00f6tik transgenin y\u00fcksek ekspresyonuyla ili\u015fkili oldu\u011fu g\u00f6r\u00fclmektedir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ayr\u0131ca kas hastal\u0131\u011f\u0131ndan etkilenen hastalarda \u00e7ok y\u00fcksek olan bir kan belirtecine de bakt\u0131k. \u00c7\u00fcnk\u00fc bu belirte\u00e7 asl\u0131nda kas dejenerasyonundan kaynaklan\u0131yor. Bu spesifik belirte\u00e7 GNT0004 ile tedavi edilen hastalarda dik bir d\u00fc\u015f\u00fc\u015f g\u00f6steriyor.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bu elemanlarda dejenerasyon kan belirtecindeki transgen azalmas\u0131n\u0131n ifadesinin \u00e7ok g\u00fc\u00e7l\u00fc ve birle\u015fen elemanlar oldu\u011funu g\u00f6r\u00fcyoruz.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Mesaj a\u00e7\u0131kt\u0131r.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">GNT0004, Duchenne Musk\u00fcler Distrofisi i\u00e7in Gen Terapileri alan\u0131nda S\u0131n\u0131f\u0131n\u0131n En \u0130yisi olma potansiyeline sahiptir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bunu hasta \u00e7ocuklara ve ailelerine ula\u015ft\u0131rmaya kararl\u0131y\u0131z.<\/p>","protected":false},"excerpt":{"rendered":"<p>The Chief Executive Officer of Genethon, Frederic Revah, made the announcement on the YouTube channel of AFM-Telethon that the GNT0004 gene therapy, which is presently undergoing clinical trials, will produce outstanding outcomes for patients suffering from Duchenne muscular dystrophy (DMD). Transcript of Genethon CEO Frederic Revah Speech Hello I&#8217;m Frederic Revah. I&#8217;m the CEO of [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":3525,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[281],"tags":[66,342,61,105,343,220,344],"class_list":["post-3512","post","type-post","status-publish","format-standard","has-post-thumbnail","category-press-releases","tag-duchenne-muscular-dystrophy","tag-frederic-revah","tag-gene-therapy","tag-genethon","tag-george-dickson","tag-gnt0004","tag-microdystrophin"],"subtitle":"Genethon CEO'su Frederic Revah, GNT0004 gen terapisinin Duchenne kas distrofisi (DMD) hastalar\u0131nda kayda de\u011fer sonu\u00e7lar sa\u011flayaca\u011f\u0131n\u0131 duyurdu.","_links":{"self":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/3512","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/comments?post=3512"}],"version-history":[{"count":0,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/3512\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media\/3525"}],"wp:attachment":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media?parent=3512"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/categories?post=3512"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/tags?post=3512"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}