{"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"],"subtitle":"Genethon, Duchenne kas distrofisi hastalar\u0131nda deneysel GNT0004 gen terapisi i\u00e7in umut verici iki y\u0131ll\u0131k sonu\u00e7lar bildirdi. Terapi, NSAA motor skorlar\u0131nda s\u00fcrekli iyile\u015fmeler ve kreatin kinaz (CK) seviyelerinde \u00f6nemli d\u00fc\u015f\u00fc\u015fler g\u00f6stererek hastal\u0131\u011f\u0131n ilerlemesini yava\u015flatabilece\u011fini d\u00fc\u015f\u00fcnd\u00fcrmektedir.","_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}]}}