{"id":4500,"date":"2025-09-18T14:58:30","date_gmt":"2025-09-18T11:58:30","guid":{"rendered":"https:\/\/dmdwarrior.com\/?p=4500"},"modified":"2025-09-18T14:58:31","modified_gmt":"2025-09-18T11:58:31","slug":"del-zota-dmd-rna-therapy-from-avidity-biosciences-reverses-the-progression-of-disease","status":"publish","type":"post","link":"https:\/\/dmdwarrior.com\/tr\/del-zota-dmd-rna-therapy-from-avidity-biosciences-reverses-the-progression-of-disease\/","title":{"rendered":"Avidity Biosciences'in Del-Zota DMD RNA Terapisi Hastal\u0131\u011f\u0131n \u0130lerlemesini Tersine \u00c7eviriyor"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Sarepta Therapeutics'in bir DMD gen tedavisi olan Elevidys'in kullan\u0131m\u0131ndan sonra iki hastan\u0131n \u00f6l\u00fcm\u00fc nedeniyle, DMD toplulu\u011fu zor bir y\u0131l ge\u00e7irdi. Aileler, aktivistler ve ara\u015ft\u0131rmac\u0131lar, deneysel genetik tedavinin tehlikeleri ve potansiyel faydalar\u0131 konusunda ay\u0131lt\u0131c\u0131 bir hat\u0131rlatma g\u00f6revi g\u00f6ren bu kay\u0131pla sars\u0131ld\u0131. <strong>Ancak bu y\u0131l\u0131n ba\u015flar\u0131nda, \u00fcz\u00fcnt\u00fc ve belirsizlik ortas\u0131nda bir umut \u0131\u015f\u0131\u011f\u0131 belirdi: Avidity Biosciences'in bir RNA tedavisi olan Del-Zota.<\/strong> Avidity, ilkbaharda distrofin genindeki 44. ekzonu atlayarak asemptomatik hastal\u0131kla ba\u011flant\u0131l\u0131 seviyelerde neredeyse tam uzunlukta bir distrofin proteininin \u00fcretimini geri kazand\u0131rarak erken mekanik ba\u015far\u0131 elde etti\u011fini bildirdi. O zamanki kan\u0131tlar, tedavinin molek\u00fcler etkileri olabilece\u011fini g\u00f6steriyordu. Avidity'nin EXPLORE44 ara\u015ft\u0131rmas\u0131ndan elde etti\u011fi son i\u015flevsel sonu\u00e7lara g\u00f6re, del-zota, DMD'nin amans\u0131z ilerleyi\u015fini sadece geciktirmekle kalm\u0131yor, ayn\u0131 zamanda tersine \u00e7eviriyor gibi g\u00f6r\u00fcn\u00fcyor.<\/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-del-zota\">DEL-ZOTA nedir?<\/a><\/li><li><a href=\"#reverses-the-progression-of-disease\">Hastal\u0131\u011f\u0131n \u0130lerlemesini Tersine \u00c7evirir<\/a><\/li><li><a href=\"#full-length-dystrophin-is-not-a-dream\">Tam Boy Distrofin Bir R\u00fcya De\u011fil<\/a><\/li><li><a href=\"#growing-and-building-muscle\">Erkek \u00c7ocuklar\u0131 B\u00fcy\u00fcyor ve Kas Olu\u015fturuyor<\/a><\/li><li><a href=\"#a-patient-or-family-friendly-dosing-regimen\">Hasta veya Aile Dostu Bir Dozaj Rejimi<\/a><\/li><li><a href=\"#biologics-license-application-bla\">Biyolojik Lisans Ba\u015fvurusu (BLA)<\/a><\/li><\/ul><\/nav><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"what-is-del-zota\">DEL-ZOTA nedir?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Del-zota, Duchenne kas distrofisi ve ekzon 44 atlamaya yatk\u0131n mutasyonlara sahip ki\u015filerde distrofin \u00fcretimini etkinle\u015ftirmek i\u00e7in distrofin geninin 44. ekzonunu \u00f6zel olarak atlamak \u00fczere iskelet kas\u0131 ve kalp dokusuna fosforodiamidat morfolino oligomerleri (PMO'lar) iletmek \u00fczere tasarlanm\u0131\u015ft\u0131r (DMD44).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Daha fazla bilgi edin<\/strong>:\u00a0<a href=\"https:\/\/dmdwarrior.com\/tr\/mutations-and-deletions-amenable-to-exon-44-skipping-therapies-dmd\/\" target=\"_blank\" rel=\"noreferrer noopener\">Duchenne Musk\u00fcler Distrofisi \u0130\u00e7in Ekzon 44 Atlama Terapilerine Uygun Mutasyonlar ve Delesyonlar<\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"reverses-the-progression-of-disease\">Hastal\u0131\u011f\u0131n \u0130lerlemesini Tersine \u00c7evirir<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">&#039;Asl\u0131nda hastal\u0131\u011f\u0131n tersine d\u00f6nd\u00fc\u011f\u00fcn\u00fc g\u00f6rd\u00fck,&#039; diyor Avidity&#039;nin ba\u015f bilim sorumlusu Dr. W. Michael Flanagan. &#039;<strong>Bu sadece ilerlemenin yava\u015flamas\u0131 de\u011fil. Asl\u0131nda hastal\u0131\u011f\u0131n tersine d\u00f6nmesi. Ve bu ilk kez oluyor.<\/strong>\u2018&#039;\u2018<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ekzon atlamada etkili oldu\u011fu g\u00f6sterilen bir kimyasal olan fosfonodiamidit morfolino oligomeri (PMO), Avidity'nin Duchenne i\u00e7in tercih etti\u011fi RNA y\u00fck\u00fcd\u00fcr. PMO, ekzon 44 uyumlu DMD'de hasarl\u0131 ekzonu atlar, okuma \u00e7er\u00e7evesini geri y\u00fckler ve fonksiyonel distrofin \u00fcretir.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"full-length-dystrophin-is-not-a-dream\">Tam Boy Distrofin Bir R\u00fcya De\u011fil<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Flanagan, &quot;Bu asl\u0131nda hasarl\u0131 ekzondan kurtulman\u0131n ve y\u00fcksek kalitede, neredeyse tam uzunlukta bir distrofin sa\u011flaman\u0131n bir yolu ve teknolojimiz bunu ba\u015farabildi&quot; dedi.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ekzon 44'te mutasyon bulunan 26 erkek ve gen\u00e7 erkek, randomize, plasebo kontroll\u00fc ve \u00e7ift k\u00f6r olan Faz I\/II EXPLORE44 ara\u015ft\u0131rmas\u0131na dahil edildi. <strong>\u0130lk bulgular cesaret vericiydi: Ekzon 44 atlanmas\u0131, kas hasar\u0131n\u0131n bir biyobelirteci olan kreatin kinaz\u0131nda (CK) ve g\u00fc\u00e7l\u00fc distrofin onar\u0131m\u0131nda \u00f6nemli azalmalara yol a\u00e7t\u0131.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Daha fazla bilgi edin<\/strong>: <a href=\"https:\/\/dmdwarrior.com\/tr\/avidity-biosciences-del-zota-increase-dystrophin-phase-1-2-clinical-trial\/\" target=\"_blank\" rel=\"noreferrer noopener\">Del-zota (Ekzon 44 Atlama Terapisi), Faz 1\/2 Denemesinde Temel Fonksiyonel Son Noktalarda Hastal\u0131\u011f\u0131n \u0130lerlemesinin Tersine D\u00f6nd\u00fc\u011f\u00fcn\u00fc G\u00f6sterdi<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Flanagan, \"Hasarl\u0131 bir alel bulunan vakalarda, muhtemelen yakla\u015f\u0131k 50% \u00fcretirler ve asemptomatik kal\u0131rlar,\" diye belirtti. \"Normal seviyelere yak\u0131n veya en az\u0131ndan asemptomatik distrofin seviyelerine ula\u015f\u0131yoruz. Bu sonu\u00e7lar, CK'nin neredeyse normal seviyelere d\u00fc\u015ft\u00fc\u011f\u00fcn\u00fc g\u00f6steriyor. Duchenne'deki ba\u015fka hi\u00e7bir program\u0131n CK seviyelerinde bu kadar normale yak\u0131n bir iyile\u015fme g\u00f6sterdi\u011fini sanm\u0131yorum. Del-zota ile tedavi edilen ki\u015filerin yakla\u015f\u0131k 50%'sinin normal aral\u0131kta oldu\u011funu g\u00f6r\u00fcyoruz. Geri kalanlar ise normal aral\u0131\u011f\u0131n hemen \u00fczerinde seyrediyor.\" \u2013 <a href=\"https:\/\/dmdwarrior.com\/tr\/what-is-creatine-kinase-ck\/\" data-type=\"post\" data-id=\"2167\" target=\"_blank\" rel=\"noreferrer noopener\">Kreatin kinaz nedir?<\/a> \u2013<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"growing-and-building-muscle\">Erkek \u00c7ocuklar\u0131 B\u00fcy\u00fcyor ve Kas Olu\u015fturuyor<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">De\u011fi\u015fiklikler \u00e7ocuklarda da g\u00f6zle g\u00f6r\u00fcl\u00fcr hale geliyor: merdivenleri daha kolay \u00e7\u0131k\u0131yorlar, yerden daha h\u0131zl\u0131 kalkabiliyorlar veya (y\u00fcr\u00fcyemeyen hastalarda) yemek masas\u0131nda daha uza\u011fa uzanabiliyorlar. Flanagan, &quot;G\u00f6rd\u00fc\u011f\u00fcm\u00fcz \u015fey e\u015fi benzeri g\u00f6r\u00fclmemi\u015f bir \u015fey,&quot; dedi. &quot;Y\u00fcksek kaliteli distrofin \u00fcretip kaslar\u0131 hasardan korudu\u011funuzda olan bu. \u00c7ocuklar b\u00fcy\u00fcyor ve kas in\u015fa ediyor ve hastal\u0131\u011f\u0131n bir\u00e7ok farkl\u0131 i\u015flevsel son noktada tersine d\u00f6nd\u00fc\u011f\u00fcn\u00fc g\u00f6receksiniz. Bu b\u00fcy\u00fck bir haber! \u0130nsanlar\u0131n \u00f6nemsedi\u011fi \u015fey bu.&quot;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"a-patient-or-family-friendly-dosing-regimen\">Hasta veya Aile Dostu Bir Dozaj Rejimi<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Del-zota, Flanagan&#039;\u0131n &quot;hasta veya aile dostu bir doz rejimi&quot; olarak adland\u0131rd\u0131\u011f\u0131 alt\u0131 haftada bir dozlan\u0131yor; piyasadaki baz\u0131 PMO&#039;lar ise haftal\u0131k doz gerektiriyor.<\/strong> Flanagan, &quot;Ailelerin seyahat edip bu t\u00fcr aktivitelere kat\u0131lmas\u0131 son derece zor, aksi takdirde evde inf\u00fczyon yapmak zorunda kal\u0131yoruz,&quot; dedi. &quot;Bu ger\u00e7ekten aile dostu. Tatile gidebilirsiniz. Bir yolculu\u011fa \u00e7\u0131kabilir ve her seferinde bu aktivitelere kat\u0131labilirsiniz; dozlama alt\u0131 haftada bir yap\u0131l\u0131r. Bunun sadece hastal\u0131\u011f\u0131n benzeri g\u00f6r\u00fclmemi\u015f bir \u015fekilde tersine \u00e7evrilmesi de\u011fil, ayn\u0131 zamanda olumlu g\u00fcvenlik \u00f6zellikleri ta\u015f\u0131d\u0131\u011f\u0131na ve hastalar i\u00e7in \u00e7ok uygun oldu\u011funa inan\u0131yoruz.&quot; \u2013 <strong>Devam\u0131n\u0131 oku<\/strong>: <a href=\"https:\/\/filecache.investorroom.com\/mr5ir_aviditybiosciences\/270\/Sep_10_2025_Del-zota_Fxnl_Data_Webcast_FINAL_09-09-25.pdf\" target=\"_blank\" rel=\"noopener\">Del-zota EXPLORE44-OLE \u0130\u015flevsel Veriler<\/a> \u2013<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"biologics-license-application-bla\">Biyolojik Lisans Ba\u015fvurusu (BLA)<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Avidity, h\u0131zland\u0131r\u0131lm\u0131\u015f onay kapsam\u0131nda ilk biyolojik ila\u00e7 lisans ba\u015fvurusunu (BLA) y\u0131l sonuna kadar sunmay\u0131 planl\u0131yor. Flanagan, &quot;\u015eu anda \u00fczerinde \u00e7ok \u00e7al\u0131\u015f\u0131yoruz ve hem yaz\u0131m hem de inceleme b\u00f6l\u00fcmlerimiz var,&quot; dedi. &quot;Bu h\u0131zland\u0131r\u0131lm\u0131\u015f bir onay olacak. Yani ihtiyac\u0131m\u0131z olan t\u00fcm distrofinlere sahibiz. Asl\u0131nda, g\u00fcvenlik veritaban\u0131m\u0131z\u0131 olu\u015fturmak i\u00e7in ge\u00e7en y\u0131l\u0131n sonunda hasta ekledik, ancak biyopsiler i\u00e7in ek hastaya ihtiyac\u0131m\u0131z olmad\u0131. Bu, hasta dostu bir uygulamayd\u0131 \u00e7\u00fcnk\u00fc distrofin seviyelerinde o kadar fazla fark vard\u0131 ki, kurum distrofin seviyelerimizin e\u015fi benzeri g\u00f6r\u00fclmemi\u015f oldu\u011funa ikna olmu\u015ftu.&quot; \u00c7\u0131\u011f\u0131r a\u00e7an bir onay\u0131n al\u0131nmas\u0131yla Flanagan, h\u0131zl\u0131 bir FDA incelemesi ve 2026 veya 2027&#039;de potansiyel bir lansman umuyor.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Devam\u0131n\u0131 oku<\/strong>:&nbsp;<a href=\"https:\/\/dmdwarrior.com\/tr\/upcoming-exon-44-skipping-therapies-for-dmd\/\" target=\"_blank\" rel=\"noreferrer noopener\">Duchenne Musk\u00fcler Distrofi Tedavisinde Yakla\u015fan Ekzon 44 Atlama Terapileri<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>Due to the deaths of two patients following the use of Elevidys, a DMD gene therapy from Sarepta Therapeutics, the DMD community has had a difficult year. Families, activists, and researchers were all shaken by the loss, which served as a sobering reminder of the dangers and potential benefits of experimental genetic therapy. But earlier [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":4508,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[282],"tags":[126,298,397,141,127,246,299],"class_list":["post-4500","post","type-post","status-publish","format-standard","has-post-thumbnail","category-editorials","tag-avidity-biosciences","tag-del-zota","tag-delpacibart-zotadirsen","tag-exon-44","tag-exon-44-skipping","tag-exon-44-skipping-therapies","tag-explore44"],"_links":{"self":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/4500","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=4500"}],"version-history":[{"count":0,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/4500\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media\/4508"}],"wp:attachment":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media?parent=4500"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/categories?post=4500"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/tags?post=4500"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}