{"id":8567,"date":"2026-08-24T13:49:06","date_gmt":"2026-08-24T10:49:06","guid":{"rendered":"https:\/\/dmdwarrior.com\/?p=8567"},"modified":"2026-08-24T16:14:23","modified_gmt":"2026-08-24T13:14:23","slug":"pbgene-dmd-first-patient-dosed-gene-editing-study","status":"publish","type":"post","link":"https:\/\/dmdwarrior.com\/tr\/pbgene-dmd-first-patient-dosed-gene-editing-study\/","title":{"rendered":"PBGENE-DMD Klinik Denemelere Ba\u015flad\u0131: Duchenne Gen D\u00fczenleme \u00c7al\u0131\u015fmas\u0131nda \u0130lk Hastaya Doz Verildi"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Precision BioSciences, Duchenne kas distrofisi (DMD) gen d\u00fczenlemesinde \u00f6nemli bir d\u00f6n\u00fcm noktas\u0131na ula\u015ft\u0131. <strong>\u015eirket, 24 A\u011fustos 2026&#039;da, Duchenne kas distrofisi i\u00e7in deneysel bir in vivo gen d\u00fczenleme tedavisi olan PBGENE-DMD&#039;yi de\u011ferlendiren Faz 1\/2 FUNCTION-DMD klinik denemesinde ilk hastaya doz uyguland\u0131\u011f\u0131n\u0131 duyurdu.<\/strong> \u0130lk doz, Duchenne kas distrofisi konusunda uzmanla\u015fm\u0131\u015f bir merkez olan Arkansas \u00c7ocuk Hastanesi&#039;nde uyguland\u0131.<\/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=\"#what-is-pbgene-dmd\">PBGENE-DMD nedir?<\/a><\/li><li><a href=\"#why-exons-45-55-matter-in-duchenne\">Duchenne Hastal\u0131\u011f\u0131nda 45-55. Ekzonlar\u0131n \u00d6nemi<\/a><\/li><li><a href=\"#function-dmd-phase-1-2-trial-begins\">FUNCTION-DMD Faz 1\/2 Denemesi Ba\u015fl\u0131yor<\/a><\/li><li><a href=\"#how-pbgene-dmd-differs-from-microdystrophin\">PBGENE-DMD ile Mikrodistrofin Aras\u0131ndaki Fark Nedir?<\/a><\/li><li><a href=\"#what-should-dmd-families-watch-next\">DMD hastalar\u0131 aileler bundan sonra nelere dikkat etmeli?<\/a><\/li><\/ul><\/nav><\/div>\n\n\n\n<h2 id=\"what-is-pbgene-dmd\" class=\"wp-block-heading\">PBGENE-DMD nedir?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">PBGENE-DMD, k\u0131salt\u0131lm\u0131\u015f bir distrofin proteini iletmek yerine, altta yatan genetik kusuru gidermek \u00fczere tasarlanm\u0131\u015ft\u0131r. Tedavi, DMD geninden 45-55. ekzonlar\u0131 \u00e7\u0131karmak i\u00e7in tek bir AAV vekt\u00f6r\u00fc arac\u0131l\u0131\u011f\u0131yla iletilen iki tamamlay\u0131c\u0131 ARCUS n\u00fckleaz\u0131 kullan\u0131r. Ama\u00e7, okuma \u00e7er\u00e7evesini geri kazand\u0131rmak ve neredeyse tam uzunlukta i\u015flevsel bir distrofin proteininin \u00fcretimini sa\u011flamakt\u0131r.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bu strateji bilimsel a\u00e7\u0131dan \u00f6nemlidir \u00e7\u00fcnk\u00fc gen d\u00fczenleme daha \u00f6nce distrofin geninin bozucu b\u00f6lgelerini ortadan kald\u0131rmak ve distrofin ekspresyonunu geri kazand\u0131rmak i\u00e7in bir y\u00f6ntem olarak ara\u015ft\u0131r\u0131lm\u0131\u015ft\u0131r. Deneysel \u00e7al\u0131\u015fmalar, DMD modellerinde ekzon 45-55 silinmesini ve distrofin ekspresyonunun geri kazan\u0131lmas\u0131n\u0131 g\u00f6stermi\u015ftir. Daha Fazla Bilgi Edinin: <a href=\"https:\/\/dmdwarrior.com\/tr\/precision-biosciences-pbgene-dmd-restores-production-of-nearly-full-length-dystrophin-protein\/\" target=\"_blank\" data-type=\"post\" data-id=\"3860\" rel=\"noreferrer noopener\">PBGENE-DMD<\/a><\/p>\n\n\n\n<h2 id=\"why-exons-45-55-matter-in-duchenne\" class=\"wp-block-heading\">Duchenne Hastal\u0131\u011f\u0131nda 45-55. Ekzonlar\u0131n \u00d6nemi<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Ekzon 45-55 b\u00f6lgesi, DMD mutasyonlar\u0131n\u0131n yo\u011funla\u015ft\u0131\u011f\u0131 \u00f6nemli bir b\u00f6lgeyi temsil etmektedir. <strong>Precision BioSciences, bu b\u00f6lgedeki mutasyonlar\u0131n, DMD'li erkek \u00e7ocuklar\u0131n yakla\u015f\u0131k '\u0131n\u0131n PBGENE-DMD ile tedavi edilebilir hale gelmesini sa\u011flayabilece\u011fini tahmin etmektedir.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ancak genetik uygunluk, klinik etkinlikle kar\u0131\u015ft\u0131r\u0131lmamal\u0131d\u0131r. Bir hastan\u0131n hedef b\u00f6lgede bir mutasyonu olabilir ve yine de klinik bir denemenin veya gelecekteki bir tedavinin uygun olup olmad\u0131\u011f\u0131na karar verilmeden \u00f6nce ek de\u011ferlendirmeye ihtiya\u00e7 duyabilir.<\/p>\n\n\n\n<h2 id=\"function-dmd-phase-1-2-trial-begins\" class=\"wp-block-heading\">FUNCTION-DMD Faz 1\/2 Denemesi Ba\u015fl\u0131yor<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>FUNCTION-DMD \u00e7al\u0131\u015fmas\u0131 \u015fu anda 45 ile 55. ekzonlar aras\u0131nda mutasyon bulunan, 2-7 ya\u015f aras\u0131 ayakta tedavi g\u00f6ren DMD hastalar\u0131n\u0131 kaydetmektedir.<\/strong> ABD&#039;deki bir\u00e7ok \u00f6zel Duchenne klinik merkezi \u00e7al\u0131\u015fmaya dahil olmu\u015f olup, ilk g\u00fcvenlik verilerinin 2026 y\u0131l\u0131n\u0131n sonuna kadar elde edilmesi beklenmektedir. \u015eimdi Ke\u015ffedin: <a href=\"https:\/\/dmdwarrior.com\/tr\/duchenne-exon-deletion-tool\/\" target=\"_blank\" rel=\"noreferrer noopener\">Duchenne Ekzon Silme Arac\u0131<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u00d6ncelikli konu g\u00fcvenliktir. PBGENE-DMD DNA&#039;y\u0131 kal\u0131c\u0131 olarak de\u011fi\u015ftirdi\u011fi i\u00e7in, klinik program sadece d\u00fczenlemenin ger\u00e7ekle\u015fip ger\u00e7ekle\u015fmedi\u011fini de\u011fil, ayn\u0131 zamanda tedavinin kabul edilebilir bir g\u00fcvenlik profili ve anlaml\u0131 biyolojik ve fonksiyonel etkiler \u00fcretip \u00fcretmedi\u011fini de belirlemelidir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bu ayr\u0131m \u00e7ok \u00f6nemlidir. Klinik \u00f6ncesi ba\u015far\u0131, klinik etkinli\u011fi kan\u0131tlamaz. DMD ila\u00e7 geli\u015ftirme i\u00e7in FDA k\u0131lavuzu, klinik olarak anlaml\u0131 sonu\u00e7lar\u0131n \u00f6nemini vurgular ve m\u00fcmk\u00fcn oldu\u011funca iskelet, solunum ve kardiyak belirtiler genelinde de\u011ferlendirme yap\u0131lmas\u0131n\u0131 te\u015fvik eder. Daha Fazla Bilgi Edinin: <a href=\"https:\/\/dmdwarrior.com\/clinical-trials\/pbgene-dmd-phase-1-2a-clinical-trial-for-duchenne-function-dmd\/\" target=\"_blank\" rel=\"noreferrer noopener\">PBGENE-DMD Faz 1\/2a Klinik \u00c7al\u0131\u015fmas\u0131<\/a><\/p>\n\n\n\n<h2 id=\"how-pbgene-dmd-differs-from-microdystrophin\" class=\"wp-block-heading\">PBGENE-DMD ile Mikrodistrofin Aras\u0131ndaki Fark Nedir?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">En \u00f6nemli farkl\u0131l\u0131klardan biri, distrofinin hedeflenen kayna\u011f\u0131d\u0131r. PBGENE-DMD, hastan\u0131n kendi DMD genini d\u00fczenlemeyi ama\u00e7layarak, neredeyse tam uzunlukta bir distrofin proteininin endojen \u00fcretimini potansiyel olarak m\u00fcmk\u00fcn k\u0131lar. Bu, k\u0131salt\u0131lm\u0131\u015f bir distrofin yap\u0131s\u0131 tan\u0131tan mikrodistrofin yakla\u015f\u0131mlar\u0131ndan farkl\u0131d\u0131r.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Precision BioSciences, hayvan modellerinde distrofin restorasyonu ve fonksiyonel iyile\u015fmeler de dahil olmak \u00fczere umut verici preklinik bulgular bildirmi\u015ftir. Bu bulgular preklinik niteliktedir ve bu nedenle insanlarda benzer faydalar\u0131n olup olmayaca\u011f\u0131n\u0131 belirleyemez.<\/p>\n\n\n\n<h2 id=\"what-should-dmd-families-watch-next\" class=\"wp-block-heading\">DMD hastalar\u0131 aileler bundan sonra nelere dikkat etmeli?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">En \u00f6nemli d\u00f6n\u00fcm noktalar\u0131 klinik g\u00fcvenlik verileri, distrofin restorasyonu, fonksiyonel sonu\u00e7lar ve kal\u0131c\u0131l\u0131k olacakt\u0131r. Aileler, \u015firket taraf\u0131ndan bildirilen preklinik sonu\u00e7lar ile hakemli insan klinik kan\u0131tlar\u0131 aras\u0131nda dikkatli bir ayr\u0131m yapmal\u0131d\u0131r.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">DMD, iskelet, kalp ve solunum kaslar\u0131n\u0131 etkileyen \u00e7oklu sistem hastal\u0131\u011f\u0131d\u0131r; bu nedenle kapsaml\u0131 bir de\u011ferlendirme \u015fartt\u0131r.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Dolay\u0131s\u0131yla ilk hasta dozlamas\u0131 bir ba\u015flang\u0131\u00e7t\u0131r, bir sonu\u00e7 de\u011fil. PBGENE-DMD art\u0131k laboratuvar geli\u015ftirme a\u015famas\u0131ndan insan klinik testlerine ge\u00e7mi\u015ftir. Bir sonraki soru, bu gen d\u00fczenleme stratejisinin biyolojik vaadini Duchenne kas distrofisi olan insanlar i\u00e7in kal\u0131c\u0131 ve anlaml\u0131 faydalara g\u00fcvenli bir \u015fekilde d\u00f6n\u00fc\u015ft\u00fcr\u00fcp d\u00f6n\u00fc\u015ft\u00fcremeyece\u011fidir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Daha Fazlas\u0131n\u0131 Ke\u015ffedin: <a href=\"https:\/\/dmdwarrior.com\/tr\/clinical-trials\/\" target=\"_blank\" rel=\"noreferrer noopener\">Duchenne Klinik Ara\u015ft\u0131rmalar\u0131n\u0131 Ke\u015ffedin <\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>Precision BioSciences has reached an important milestone in Duchenne muscular dystrophy (DMD) gene editing. The company announced on August 24, 2026, that the first patient has been dosed in the Phase 1\/2 FUNCTION-DMD clinical trial evaluating PBGENE-DMD, an investigational in vivo gene-editing therapy for Duchenne. The first dose was administered at Arkansas Children\u2019s Hospital, a [&hellip;]<\/p>\n","protected":false},"author":5,"featured_media":8568,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[27],"tags":[726,242,359,72,725,314,724,313],"class_list":["post-8567","post","type-post","status-publish","format-standard","has-post-thumbnail","category-research","tag-arcus-gene-editing","tag-clinical-trials","tag-full-length-dystrophin","tag-gene-editing","tag-gene-editing-therapy","tag-pbgene-dmd","tag-pbgene-dmd-therapy","tag-precision-biosciences"],"subtitle":"PBGENE-DMD, Duchenne kas distrofisi ara\u015ft\u0131rmalar\u0131nda \u00f6nemli bir d\u00f6n\u00fcm noktas\u0131na ula\u015ft\u0131. Faz 1\/2 FUNCTION-DMD denemesinde ilk hastaya doz verildi. Gen d\u00fczenleme, DMD tedavisinde yeni bir \u00e7a\u011f ba\u015flatabilir mi?","_links":{"self":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/8567","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\/5"}],"replies":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/comments?post=8567"}],"version-history":[{"count":5,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/8567\/revisions"}],"predecessor-version":[{"id":8574,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/8567\/revisions\/8574"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media\/8568"}],"wp:attachment":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media?parent=8567"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/categories?post=8567"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/tags?post=8567"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}