{"id":4754,"date":"2025-10-09T22:19:43","date_gmt":"2025-10-09T19:19:43","guid":{"rendered":"https:\/\/dmdwarrior.com\/?p=4754"},"modified":"2025-10-09T22:19:44","modified_gmt":"2025-10-09T19:19:44","slug":"genethon-2-year-efficacy-in-duchenne-low-dose-micro-dystrophin-gene-therapy-gnt0004","status":"publish","type":"post","link":"https:\/\/dmdwarrior.com\/tr\/genethon-2-year-efficacy-in-duchenne-low-dose-micro-dystrophin-gene-therapy-gnt0004\/","title":{"rendered":"Genethon, D\u00fc\u015f\u00fck Doz Mikro-Distrofin Gen Terapisi (GNT0004) ile Tedavi Edilen Duchenne Kas Distrofisi Hastalar\u0131nda 2 Y\u0131ll\u0131k Etkinli\u011fini Do\u011frulad\u0131"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Genethon, uzun vadeli olumlu etkinlik verilerini yay\u0131nlad\u0131 ve \u00fc\u00e7 Duchene kas distrofisi hastas\u0131n\u0131n, tedavi edilmeyen hastalara k\u0131yasla \u00f6nemli motor fonksiyon kazan\u0131m\u0131 g\u00f6sterdi\u011fini ve Genethon&#039;nin d\u00fc\u015f\u00fck doz mikro-distrofin gen terapisi (GNT0004) enjeksiyonunu ald\u0131ktan iki y\u0131l sonra kas hasar\u0131n\u0131n bir biyobelirteci olan kreatin fosfokinazda (CPK) \u00f6nemli ve kal\u0131c\u0131 azalmalar ya\u015fad\u0131\u011f\u0131n\u0131 ortaya koydu.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>3\u00d710\u00b9\u00b3 vg\/kg mikrodistrofin dozunda enjeksiyondan iki y\u0131l sonra a\u015fa\u011f\u0131dakiler g\u00f6zlendi:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>34 puanl\u0131k klinik de\u011ferlendirme \u00f6l\u00e7e\u011fi (NSAA) ile \u00f6l\u00e7\u00fclen motor fonksiyonda anlaml\u0131 bir kazan\u0131m: Paralel olarak y\u00fcr\u00fct\u00fclen do\u011fal seyir \u00e7al\u0131\u015fmas\u0131ndaki tedavi edilmemi\u015f hastalardan olu\u015fan bir kohorta k\u0131yasla 18 ayda +5,8 puan (e\u011filim puan\u0131 ile e\u015fle\u015ftirildi). Minimum farktan anlaml\u0131 derecede daha b\u00fcy\u00fck bir kazan\u0131m klinik olarak anlaml\u0131 kabul edilir (&gt;2,5 puan).<\/li>\n\n\n\n<li>Zamanl\u0131 testlerle fonksiyonel parametrelerde 18 ayda klinik fayda, 2 y\u0131lda korundu, ayakta tedavi g\u00f6ren hastalar i\u00e7in temel g\u00f6stergeler: yerden kalkmada -6,98 saniye ve 10 metre \u00fczerindeki y\u00fcr\u00fcme h\u0131z\u0131nda +0,67 m\/s (NSAA skoruna benzer kar\u015f\u0131la\u015ft\u0131rma).<\/li>\n\n\n\n<li>CPK d\u00fczeylerinde 18 ayda ortalama 75% ve 2 y\u0131lda 61% d\u00fczeyinde anlaml\u0131 ve s\u00fcrekli bir azalma (tedaviden \u00f6nceki hastalar\u0131n ba\u015flang\u0131\u00e7 durumuna k\u0131yasla), h\u00fccre zar\u0131 stabilitesi \u00fczerinde kal\u0131c\u0131 bir etkiyi yans\u0131tmaktad\u0131r.<\/li>\n\n\n\n<li>Do\u011fal seyir \u00e7al\u0131\u015fmas\u0131ndan tedavi edilmemi\u015f hasta kohortuyla kar\u015f\u0131la\u015ft\u0131r\u0131ld\u0131\u011f\u0131nda, kantitatif MRI ile kas ya\u011f oran\u0131nda (hastal\u0131\u011f\u0131n ilerlemesinin bir belirteci) 7%&#039;den daha fazla bir farkla hastal\u0131k ilerlemesinde yava\u015flama g\u00f6zlemlendi.<\/li>\n\n\n\n<li>\u00dcr\u00fcn\u00fcn g\u00fcvenli oldu\u011funu do\u011frulayan ciddi bir yan etkisi bulunmamaktad\u0131r.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Bu sonu\u00e7lar ayr\u0131ca 7-11 Ekim tarihleri aras\u0131nda Avusturya&#039;n\u0131n Viyana kentinde d\u00fczenlenen D\u00fcnya Kas Toplulu\u011fu&#039;nun WMS2025 konferans\u0131nda da sunuldu.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">&quot;Bu hastalar, Faz 1\/2\/3 Avrupa \u00e7al\u0131\u015fmam\u0131z\u0131n doz art\u0131rma b\u00f6l\u00fcm\u00fcnde tedavi edildi ve Fransa&#039;daki ilk hastalar\u0131n dahil edildi\u011fi Faz 3 temel \u00e7al\u0131\u015fmas\u0131na ba\u015flarken bu olumlu uzun vadeli etkililik bulgular\u0131n\u0131 sunmaktan heyecan duyuyoruz,&quot; dedi Genethon CEO&#039;su Frederic Revah. &quot;\u00dc\u00e7 hastaya uygulanan terap\u00f6tik 3\u00d710\u00b9\u00b3 vg\/kg doz, di\u011fer DMD gen tedavilerinden daha d\u00fc\u015f\u00fck ve y\u00fcr\u00fcme yetene\u011fini koruyan 6-10 ya\u015f aras\u0131 64 erkek \u00e7ocu\u011fun kat\u0131laca\u011f\u0131 Faz 3 \u00e7al\u0131\u015fmas\u0131nda kullan\u0131lan dozdur.&quot;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Devam\u0131n\u0131 oku<\/strong>: <a href=\"https:\/\/dmdwarrior.com\/tr\/new-gene-therapies-for-duchenne-muscular-dystrophy\/\">Duchenne Musk\u00fcler Distrofisi \u0130\u00e7in Umut Veren Yeni Gen Terapileri<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>Genethon, released positive long-term efficacy data revealing three Duchene muscular dystrophy patients showed significant motor function gain as compared to untreated patients, and experienced significant and sustained reductions in creatine phosphokinase (CPK), a biomarker of muscle damage, two years after receiving an injection of Genethon\u2019s low dose micro-dystrophin gene therapy (GNT0004). At the micro-dystrophin dose [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":4755,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[281],"tags":[342,61,105,221,106,220,434],"class_list":["post-4754","post","type-post","status-publish","format-standard","has-post-thumbnail","category-press-releases","tag-frederic-revah","tag-gene-therapy","tag-genethon","tag-gnt-0004-2","tag-gnt-0004","tag-gnt0004","tag-gnt0004-gene-therapy"],"_links":{"self":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/4754","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=4754"}],"version-history":[{"count":0,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/4754\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media\/4755"}],"wp:attachment":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media?parent=4754"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/categories?post=4754"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/tags?post=4754"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}