{"id":6720,"date":"2026-03-11T13:24:08","date_gmt":"2026-03-11T10:24:08","guid":{"rendered":"https:\/\/dmdwarrior.com\/?p=6720"},"modified":"2026-03-11T13:31:48","modified_gmt":"2026-03-11T10:31:48","slug":"genethon-gnt0004-creatine-kinase-ck-levels-and-nsaa-scores","status":"publish","type":"post","link":"https:\/\/dmdwarrior.com\/tr\/genethon-gnt0004-creatine-kinase-ck-levels-and-nsaa-scores\/","title":{"rendered":"Genethon, Kreatin Kinaz (CK) D\u00fczeylerinde ve NSAA Skorlar\u0131nda \u0130yile\u015fmelerle Birlikte GNT0004 Gen Terapisinin \u0130ki Y\u0131ll\u0131k Etkinli\u011fini Do\u011frulad\u0131"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Duchenne kas distrofisi (DMD) i\u00e7in gen terapisi ara\u015ft\u0131rmalar\u0131 ilerlemeye devam ediyor. <strong>Orlando&#039;da d\u00fczenlenen MDA Klinik ve Bilimsel Konferans\u0131&#039;nda, Frans\u0131z gen terapisi kurulu\u015fu Genethon, ara\u015ft\u0131rma a\u015famas\u0131ndaki GNT0004 tedavisinin tedaviden iki y\u0131l sonra bile klinik faydalar\u0131n\u0131 korudu\u011funu g\u00f6steren yeni uzun vadeli veriler sundu.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bulgular, klinik \u00e7al\u0131\u015fman\u0131n ilk a\u015famas\u0131nda tedavi g\u00f6ren Duchenne kas distrofisi olan erkek \u00e7ocuklarda motor fonksiyonlarda iyile\u015fme, kas hasar\u0131 biyobelirte\u00e7lerinde azalma ve olumlu bir g\u00fcvenlik profili oldu\u011funu vurgulamaktad\u0131r.<\/p>\n\n\n\n<div class=\"wp-block-rank-math-toc-block\" id=\"rank-math-toc\"><h2>\u0130\u00e7indekiler<\/h2><nav><ul><li><a href=\"#two-year-results-from-the-gnt-0004-clinical-trial\">GNT0004 Klinik \u00c7al\u0131\u015fmas\u0131n\u0131n \u0130ki Y\u0131ll\u0131k Sonu\u00e7lar\u0131<\/a><\/li><li><a href=\"#significant-improvement-in-nsaa-motor-function-scores\">NSAA Motor Fonksiyon Puanlar\u0131nda \u00d6nemli \u0130yile\u015fme<\/a><\/li><li><a href=\"#improvements-in-walking-tests\">Y\u00fcr\u00fcme Testlerinde Geli\u015fmeler<\/a><\/li><li><a href=\"#large-reduction-in-creatine-kinase-ck-levels\">Kreatin Kinaz (CK) Seviyelerinde B\u00fcy\u00fck Azalma<\/a><\/li><li><a href=\"#mri-imaging-shows-slower-disease-progression\">MR, Hastal\u0131\u011f\u0131n Daha Yava\u015f \u0130lerledi\u011fini G\u00f6steriyor<\/a><\/li><li><a href=\"#favorable-safety-profile\">Olumlu G\u00fcvenlik Profili<\/a><\/li><li><a href=\"#pivotal-phase-of-the-trial-now-underway\">Ara\u015ft\u0131rman\u0131n Kritik A\u015famas\u0131 \u015eu Anda Devam Ediyor<\/a><\/li><li><a href=\"#why-these-results-matter\">Bu Sonu\u00e7lar Neden \u00d6nemli?<\/a><\/li><\/ul><\/nav><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"two-year-results-from-the-gnt-0004-clinical-trial\">GNT0004 Klinik \u00c7al\u0131\u015fmas\u0131n\u0131n \u0130ki Y\u0131ll\u0131k Sonu\u00e7lar\u0131<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Uluslararas\u0131 \u00e7ok merkezli \u00e7al\u0131\u015fmaya, Duchenne kas distrofisi tan\u0131s\u0131 konmu\u015f, 6 ila 10 ya\u015f aras\u0131 ayakta tedavi g\u00f6ren erkek \u00e7ocuklar dahil edildi.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Doz art\u0131rma a\u015famas\u0131nda be\u015f hasta bu tedaviyi ald\u0131:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Fransa&#039;da d\u00f6rt hasta<\/li>\n\n\n\n<li>Birle\u015fik Krall\u0131k&#039;ta bir hasta<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u00dc\u00e7 hastaya 3\u00d710\u00b9\u00b3 vg\/kg&#039;l\u0131k tedavi dozu uyguland\u0131 ve uzun s\u00fcreli takip verileri yeni analizin temelini olu\u015fturdu.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u0130ki y\u0131l sonra yap\u0131lan \u00e7al\u0131\u015fma \u015fu sonu\u00e7lar\u0131 g\u00f6sterdi:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Motor fonksiyonlarda s\u00fcrekli iyile\u015fmeler<\/li>\n\n\n\n<li>Azalt\u0131lm\u0131\u015f kas hasar\u0131 biyobelirte\u00e7leri<\/li>\n\n\n\n<li>Hastal\u0131\u011f\u0131n daha yava\u015f ilerlemesi<\/li>\n\n\n\n<li>Ciddi bir g\u00fcvenlik endi\u015fesi yok.<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"significant-improvement-in-nsaa-motor-function-scores\">NSAA Motor Fonksiyon Puanlar\u0131nda \u00d6nemli \u0130yile\u015fme<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Motor fonksiyon de\u011ferlendirmesi, ayakta tedavi g\u00f6ren DMD hastalar\u0131 i\u00e7in yayg\u0131n olarak kullan\u0131lan bir klinik \u00f6l\u00e7ek olan North Star Ambulatory Assessment (NSAA) kullan\u0131larak yap\u0131lm\u0131\u015ft\u0131r. Daha fazla bilgi edinin: <a href=\"https:\/\/dmdwarrior.com\/tr\/north-star-ambulatory-assessment-nsaa-in-duchenne-dmd\/\" target=\"_blank\" rel=\"noreferrer noopener\">Duchenne&#039;de Kuzey Y\u0131ld\u0131z\u0131 Ayakta Tedavi De\u011ferlendirmesi (NSAA)<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ba\u015fl\u0131ca bulgular \u015funlard\u0131r:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u0130ki y\u0131l i\u00e7inde NSAA puan\u0131nda +9 puanl\u0131k iyile\u015fme<\/strong><\/li>\n\n\n\n<li>Tedavi g\u00f6rmemi\u015f hastalarla, e\u011filim puan\u0131 analizi yoluyla e\u015fle\u015ftirilerek kar\u015f\u0131la\u015ft\u0131r\u0131ld\u0131.<\/li>\n\n\n\n<li><strong>Klinik a\u00e7\u0131dan anlaml\u0131 kabul edilen 2,5 puanl\u0131k e\u015fi\u011fin olduk\u00e7a \u00fczerinde.<\/strong><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Bu sonu\u00e7lar, GNT0004&#039;\u00fcn tedavi edilen hastalarda motor yeteneklerini \u00f6nemli \u00f6l\u00e7\u00fcde iyile\u015ftirebilece\u011fini veya stabilize edebilece\u011fini g\u00f6stermektedir.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"improvements-in-walking-tests\">Y\u00fcr\u00fcme Testlerinde Geli\u015fmeler<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">GNT0004 ile tedavi edilen hastalarda ayr\u0131ca zamanl\u0131 y\u00fcr\u00fcme de\u011ferlendirmelerinde \u00f6l\u00e7\u00fclebilir kazan\u0131mlar g\u00f6zlemlendi:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Tedavi g\u00f6rmeyen hastalara k\u0131yasla 6 Dakikal\u0131k Y\u00fcr\u00fcme Testinde +173 metrelik fark.<\/strong><\/li>\n\n\n\n<li><strong>10 Metre Y\u00fcr\u00fcme Testi h\u0131z\u0131nda +0,95 m\/s art\u0131\u015f<\/strong><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Bu fonksiyonel geli\u015fmeler, tedavi g\u00f6ren \u00e7ocuklar\u0131n zaman i\u00e7inde daha iyi hareket kabiliyetini korudu\u011funu g\u00f6stermektedir.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"large-reduction-in-creatine-kinase-ck-levels\">Kreatin Kinaz (CK) Seviyelerinde B\u00fcy\u00fck Azalma<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Ara\u015ft\u0131rmac\u0131lar ayr\u0131ca kas hasar\u0131n\u0131n \u00f6nemli bir biyobelirteci olan Kreatin Kinaz (CK) seviyelerinde de b\u00fcy\u00fck bir d\u00fc\u015f\u00fc\u015f bildirdi.<\/strong> Devam\u0131n\u0131 oku: <a href=\"https:\/\/dmdwarrior.com\/tr\/what-is-creatine-kinase-ck\/\" data-type=\"post\" data-id=\"2167\" target=\"_blank\" rel=\"noreferrer noopener\">Kreatin Kinaz (CK) Nedir?<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Sonu\u00e7lar \u015funu g\u00f6sterdi:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u0130ki y\u0131l i\u00e7inde ortalama CK azalmas\u0131 yakla\u015f\u0131k 70%&#039;dir.<\/strong><\/li>\n\n\n\n<li>Her hastan\u0131n tedavi \u00f6ncesi ba\u015flang\u0131\u00e7 de\u011ferleriyle kar\u015f\u0131la\u015ft\u0131r\u0131ld\u0131\u011f\u0131nda<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u00dc\u00e7 y\u0131l boyunca takip edilen bir hastada CK seviyelerinin stabil kalmas\u0131, tedavinin kas h\u00fccresi zar\u0131 stabilitesi \u00fczerinde uzun s\u00fcreli bir etkiye sahip olabilece\u011fini d\u00fc\u015f\u00fcnd\u00fcrmektedir.<\/strong><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"mri-imaging-shows-slower-disease-progression\">MR, Hastal\u0131\u011f\u0131n Daha Yava\u015f \u0130lerledi\u011fini G\u00f6steriyor<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Kantitatif MRI g\u00f6r\u00fcnt\u00fcleme, tedavi g\u00f6ren hastalarda kas dejenerasyonunun daha yava\u015f oldu\u011funu ortaya koydu.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ara\u015ft\u0131rmac\u0131lar \u015fu g\u00f6zlemlerde bulundular:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Kas ya\u011f oran\u0131nda 18%&#039;den fazla fark<\/strong><\/li>\n\n\n\n<li>Do\u011fal seyir kohortlar\u0131ndaki tedavi g\u00f6rmemi\u015f hastalarla kar\u015f\u0131la\u015ft\u0131r\u0131ld\u0131\u011f\u0131nda<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Duchenne kas distrofisinde, y\u00fcksek ya\u011f infiltrasyonu genellikle hastal\u0131\u011f\u0131n ilerlemesini yans\u0131t\u0131r. Daha d\u00fc\u015f\u00fck seviyeler ise kas dokusunun korundu\u011funu g\u00f6sterir.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"favorable-safety-profile\">Olumlu G\u00fcvenlik Profili<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u00c7al\u0131\u015fmada ciddi bir yan etkiye rastlanmad\u0131\u011f\u0131 bildirilmi\u015f olup, bu da tedavinin iyi tolere edildi\u011fini do\u011frulamaktad\u0131r.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Hastalar, gen terapisi vekt\u00f6r\u00fcne kar\u015f\u0131 ba\u011f\u0131\u015f\u0131kl\u0131k reaksiyonlar\u0131n\u0131 en aza indirmeye yard\u0131mc\u0131 olmak amac\u0131yla ge\u00e7ici \u00f6nleyici ba\u011f\u0131\u015f\u0131kl\u0131k bask\u0131lamas\u0131 ald\u0131lar.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"pivotal-phase-of-the-trial-now-underway\">Ara\u015ft\u0131rman\u0131n Kritik A\u015famas\u0131 \u015eu Anda Devam Ediyor<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Devam eden klinik \u00e7al\u0131\u015fman\u0131n kritik a\u015famas\u0131 a\u015fa\u011f\u0131daki kurum taraf\u0131ndan onaylanm\u0131\u015ft\u0131r:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Avrupa \u0130la\u00e7 Ajans\u0131 (EMA)<\/li>\n\n\n\n<li>\u0130la\u00e7 ve Sa\u011fl\u0131k \u00dcr\u00fcnleri D\u00fczenleme Kurumu (MHRA)<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Bu a\u015fama \u015funlar\u0131 i\u00e7erecektir:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>6-10 ya\u015f aras\u0131 y\u00fcr\u00fcyebilen 64 erkek \u00e7ocu\u011fu kay\u0131t alt\u0131na al\u0131nacak.<\/strong><\/li>\n\n\n\n<li>Rastgele se\u00e7ilmi\u015f, \u00e7ift k\u00f6r, plasebo kontroll\u00fc bir tasar\u0131m kullan\u0131n.<\/li>\n\n\n\n<li><strong>Se\u00e7ilen 3\u00d710\u00b9\u00b3 vg\/kg dozunu test edin.<\/strong><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Dikkat \u00e7ekici bir \u015fekilde, bu doz, di\u011fer baz\u0131 Duchenne gen terapisi denemelerinde kullan\u0131lan dozlardan daha d\u00fc\u015f\u00fckt\u00fcr ve bu da g\u00fcvenlik a\u00e7\u0131s\u0131ndan avantajlar sa\u011flayabilir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Daha fazla bilgi edinin: <a href=\"https:\/\/dmdwarrior.com\/tr\/new-gene-therapies-for-duchenne-muscular-dystrophy\/\" target=\"_blank\" rel=\"noreferrer noopener\">Duchenne Musk\u00fcler Distrofisi \u0130\u00e7in Umut Veren Yeni Gen Terapileri<\/a><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"why-these-results-matter\">Bu Sonu\u00e7lar Neden \u00d6nemli?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Duchenne kas distrofisi, distrofin genindeki mutasyonlardan kaynaklanan ciddi bir genetik hastal\u0131kt\u0131r. Bu hastal\u0131k, ilerleyici kas dejenerasyonuna ve hareket kayb\u0131na yol a\u00e7ar.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>GNT0004 gibi gen terapileri, i\u015flevsel genetik materyali kas h\u00fccrelerine ula\u015ft\u0131rmay\u0131 ve potansiyel olarak hastal\u0131\u011f\u0131n temel nedenini ele almay\u0131 ama\u00e7lamaktad\u0131r.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u0130ki y\u0131ll\u0131k sonu\u00e7lar, GNT0004&#039;\u00fcn \u015fu olas\u0131l\u0131klar\u0131 ta\u015f\u0131d\u0131\u011f\u0131n\u0131 g\u00f6stermektedir:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Motor fonksiyonunu iyile\u015ftiriyor<\/li>\n\n\n\n<li>Kas hasar\u0131n\u0131 azalt\u0131yor<\/li>\n\n\n\n<li>Hastal\u0131\u011f\u0131n yava\u015f ilerlemesini sa\u011flar<\/li>\n\n\n\n<li>Y\u00f6netilebilir bir g\u00fcvenlik profili s\u00fcrd\u00fcr\u00fcyor<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Bu \u00f6nemli \u00e7al\u0131\u015fmadan elde edilecek daha sonraki sonu\u00e7lar, bu terapinin nihayetinde onaylanm\u0131\u015f bir tedavi se\u00e7ene\u011fi haline gelip gelemeyece\u011fini belirleyecektir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Bu Sayfay\u0131 Takip Edin<\/strong>&nbsp;&gt;&gt;&gt;&nbsp;<a href=\"https:\/\/dmdwarrior.com\/tr\/dmd-therapies\/\" target=\"_blank\" rel=\"noreferrer noopener\">Duchenne i\u00e7in T\u00fcm Klinik Ara\u015ft\u0131rmalar<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>Gene therapy research for Duchenne muscular dystrophy (DMD) continues to advance. At the MDA Clinical &amp; Scientific Conference in Orlando, the French gene therapy organization Genethon presented new long-term data showing that its investigational therapy GNT0004 maintains clinical benefits two years after treatment. The findings highlight improvements in motor function, reductions in muscle damage biomarkers, [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":6722,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[282],"tags":[68,61,105,220,434,449],"class_list":["post-6720","post","type-post","status-publish","format-standard","has-post-thumbnail","category-editorials","tag-creatine-kinase","tag-gene-therapy","tag-genethon","tag-gnt0004","tag-gnt0004-gene-therapy","tag-nsaa"],"_links":{"self":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/6720","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=6720"}],"version-history":[{"count":0,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/6720\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media\/6722"}],"wp:attachment":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media?parent=6720"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/categories?post=6720"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/tags?post=6720"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}