{"id":25731,"date":"2025-08-25T09:00:33","date_gmt":"2025-08-25T13:00:33","guid":{"rendered":"https:\/\/www.emilysentourage.org\/?p=25731"},"modified":"2025-08-22T16:27:02","modified_gmt":"2025-08-22T20:27:02","slug":"genetic-therapies-for-the-final-10-whats-coming-into-focus","status":"publish","type":"post","link":"https:\/\/www.emilysentourage.org\/tr\/genetic-therapies-for-the-final-10-whats-coming-into-focus\/","title":{"rendered":"Son 10% i\u00e7in Genetik Tedaviler: Odak Noktas\u0131na Neler Geliyor?"},"content":{"rendered":"<div data-elementor-type=\"wp-post\" data-elementor-id=\"25731\" class=\"elementor elementor-25731\" data-elementor-post-type=\"post\">\n\t\t\t\t<div class=\"elementor-element elementor-element-5d115a91 e-flex e-con-boxed e-con e-parent\" data-id=\"5d115a91\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-3cbb6e34 elementor-widget elementor-widget-text-editor\" data-id=\"3cbb6e34\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><img fetchpriority=\"high\" decoding=\"async\" class=\"alignright wp-image-25743\" src=\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Post-Symposium-Webinar-Promo-1-3-240x300.png\" alt=\"\" width=\"400\" height=\"500\" srcset=\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Post-Symposium-Webinar-Promo-1-3-240x300.png 240w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Post-Symposium-Webinar-Promo-1-3-819x1024.png 819w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Post-Symposium-Webinar-Promo-1-3-768x960.png 768w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Post-Symposium-Webinar-Promo-1-3-10x12.png 10w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Post-Symposium-Webinar-Promo-1-3-440x550.png 440w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Post-Symposium-Webinar-Promo-1-3-600x750.png 600w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Post-Symposium-Webinar-Promo-1-3.png 1080w\" sizes=\"(max-width: 400px) 100vw, 400px\" \/><span style=\"font-weight: 400;\">Genetik tedavi geli\u015ftirme potansiyeli y\u0131llard\u0131r kistik fibrozis (KF) toplulu\u011fu i\u00e7in, \u00f6zellikle de mevcut CFTR mod\u00fclat\u00f6rlerinden fayda g\u00f6rmeyen son 10% grubundakiler i\u00e7in temkinli bir umut kayna\u011f\u0131 olmu\u015ftur. Y\u0131llar i\u00e7inde ara\u015ft\u0131rmalar \u00f6nemli \u00f6l\u00e7\u00fcde ilerlemi\u015f ve son zamanlarda birden fazla genetik tedavi klinik deneylere kadar ilerlemi\u015ftir.&nbsp;<\/span><\/p>\n<p><span style=\"font-weight: 400;\">T\u00fcm yeni geli\u015fmeler ve g\u00fcncellemelerle birlikte, bu tedaviler hakk\u0131nda - anla\u015f\u0131l\u0131r bir \u015fekilde - pek \u00e7ok soru var - vaatler, zorluklar, zaman \u00e7izelgeleri ve \u00e7ok daha fazlas\u0131! Bu sorular\u0131 ele almak ve en son bilimsel sempozyumumuzda sunulan ara\u015ft\u0131rmalar hakk\u0131nda toplumu bilgilendirmek i\u00e7in Emily's Entourage (EE) \u00f6zel bir web seminerine ev sahipli\u011fi yapt\u0131<\/span><a href=\"https:\/\/youtu.be\/9gEdp0w_5iE\" target=\"_blank\" rel=\"noopener\"><b><i>KF'de Gen Tedavisi G\u00fcncellemeleri: Bilimsel Sempozyum \u00d6zeti ve Soru-Cevap<\/i><\/b><\/a><span style=\"font-weight: 400;\">-Son geli\u015fmeleri ve bunlar\u0131n son 10%'dekiler i\u00e7in ne anlama geldi\u011fini payla\u015f\u0131yor.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Etkinlikte \u00f6nde gelen \u00fc\u00e7 KF ara\u015ft\u0131rmac\u0131s\u0131 ve klinisyeni yer ald\u0131:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Jennifer Taylor-Cousar, <\/b><b>MD, MSCS, ATSF<\/b><span style=\"font-weight: 400;\">, National Jewish Health<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Patrick Harrison, PhD<\/b><span style=\"font-weight: 400;\">, Cincinnati \u00c7ocuk Hastanesi T\u0131p Merkezi<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Paul McCray, Jr., MD<\/b><span style=\"font-weight: 400;\">, Iowa \u00dcniversitesi<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">EE'nin Bilimsel Ba\u015f Sorumlusu PhD Chandra Ghose'un moderat\u00f6rl\u00fc\u011f\u00fcnde ger\u00e7ekle\u015fen s\u00f6yle\u015fi, heyecan verici geli\u015fmeler ve yenilik\u00e7i stratejilerden hala \u00f6n\u00fcm\u00fczde duran zorluklara kadar KF genetik tedavilerine net bir bak\u0131\u015f sundu.<\/span><\/p>\n<hr>\n<h2><b>\u00d6nemli \u00c7\u0131kar\u0131mlar: Odak Noktas\u0131na Neler Geliyor<\/b><\/h2>\n<p><span style=\"font-weight: 400;\">Genetik tedavilerin ard\u0131ndaki bilim karma\u015f\u0131k olsa da, uzman panelimizden gelen temel mesaj a\u00e7\u0131kt\u0131: <\/span><b>her zamankinden daha yak\u0131n\u0131z.<\/b><span style=\"font-weight: 400;\"> Bu geli\u015fmeler art\u0131k sadece teorik de\u011fil, laboratuvarlarda ve klinik ara\u015ft\u0131rma merkezlerinde \u015fekilleniyor ve son 10%'de olanlar i\u00e7in ger\u00e7ek bir umut sunuyor.<\/span><\/p>\n<h3><b>1. Gen D\u00fczenleme Ara\u00e7lar\u0131 Neyin M\u00fcmk\u00fcn Oldu\u011funu Yeniden Yaz\u0131yor<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">Laboratuvarda CRISPR, baz d\u00fczenleme ve asal d\u00fczenleme gibi gen d\u00fczenleme ara\u00e7lar\u0131 art\u0131k CFTR genindeki mutasyonlar\u0131n DNA d\u00fczeyinde tam olarak d\u00fczeltilmesini m\u00fcmk\u00fcn k\u0131l\u0131yor. Bu, yaln\u0131zca semptomlar\u0131 y\u00f6neten mevcut tedavilerin \u00f6tesinde b\u00fcy\u00fck bir s\u0131\u00e7ramay\u0131 temsil ediyor - KF'nin temel nedenini d\u00fczeltme potansiyeline sahipler.&nbsp;<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Baz\u0131 yakla\u015f\u0131mlar, laboratuvarda yeti\u015ftirilen h\u00fccrelerde ve hayvan modellerinde \u015fimdiden umut verici sonu\u00e7lar g\u00f6stermi\u015ftir. Akci\u011fer h\u00fccrelerine ula\u015ft\u0131rma ve d\u00fczenlemelerin kal\u0131c\u0131 olmas\u0131n\u0131 sa\u011flama gibi zorluklar devam etse de, bu ilerlemeler gelecekte tek seferlik, kal\u0131c\u0131 bir tedavi olas\u0131l\u0131\u011f\u0131n\u0131 art\u0131rmaktad\u0131r.<\/span><\/p>\n<h3><b>2. Teslimat Bir Sonraki B\u00fcy\u00fck S\u0131n\u0131r Olmaya Devam Ediyor<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">Hatal\u0131 genleri d\u00fczeltme veya de\u011fi\u015ftirme yetene\u011fi denklemin sadece bir par\u00e7as\u0131d\u0131r. Di\u011fer ve tart\u0131\u015fmas\u0131z daha b\u00fcy\u00fck zorluk ise bu tedavilerin KF hasar\u0131n\u0131n birincil b\u00f6lgesi olan akci\u011fer h\u00fccrelerine etkili bir \u015fekilde ula\u015ft\u0131r\u0131lmas\u0131d\u0131r.&nbsp;<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Akci\u011ferler benzersiz bir \u015fekilde zor bir ortam sunar: kal\u0131n mukus, iltihaplanma ve v\u00fccudun ba\u011f\u0131\u015f\u0131kl\u0131k savunmas\u0131, tedavileri bozabilecek veya engelleyebilecek bariyerler olarak i\u015flev g\u00f6r\u00fcr. Bunun \u00fcstesinden gelmek i\u00e7in ara\u015ft\u0131rmac\u0131lar, a\u015fa\u011f\u0131dakiler de dahil olmak \u00fczere \u00e7e\u015fitli da\u011f\u0131t\u0131m ara\u00e7lar\u0131 geli\u015ftirmekte ve test etmektedir:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Lipid nanopartik\u00fcller (LNP'ler):<\/b><span style=\"font-weight: 400;\"> COVID-19 a\u015f\u0131lar\u0131nda kullan\u0131lanlara benzer k\u00fc\u00e7\u00fck ya\u011f bazl\u0131 ta\u015f\u0131y\u0131c\u0131lar, mRNA'y\u0131 inhalasyon yoluyla iletmek i\u00e7in tasarlanm\u0131\u015ft\u0131r.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Viral vekt\u00f6rler:<\/b><span style=\"font-weight: 400;\"> DNA veya RNA'y\u0131 hedef h\u00fccrelere g\u00fcvenli bir \u015fekilde yerle\u015ftirebilen modifiye vir\u00fcsler.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Vir\u00fcs benzeri partik\u00fcller ve peptitler:<\/b><span style=\"font-weight: 400;\"> G\u00fc\u00e7l\u00fc ba\u011f\u0131\u015f\u0131kl\u0131k reaksiyonlar\u0131n\u0131 tetiklemeden vir\u00fcsleri taklit edecek \u015fekilde tasarlanm\u0131\u015ft\u0131r.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Buna ek olarak bilim insanlar\u0131, mukusu inceltebilen ve iletimi art\u0131rabilen hipertonik salin gibi mevcut KF tedavilerini kullanarak tedavinin h\u00fccrelere eri\u015fimini iyile\u015ftirmenin yollar\u0131n\u0131 ara\u015ft\u0131r\u0131yor.<\/span><\/p>\n<h3><b>3. Tedaviye Do\u011fumdan \u00d6nce Ba\u015flamak<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">En \u00e7arp\u0131c\u0131 tart\u0131\u015fmalardan biri \u015fu konuya odakland\u0131 <\/span><i><span style=\"font-weight: 400;\">Rahim i\u00e7i<\/span><\/i><span style=\"font-weight: 400;\"> terapisi - bebek daha do\u011fmadan KF'nin tedavi edilmesi.&nbsp;<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\u0130lk hayvan \u00e7al\u0131\u015fmalar\u0131, hamilelik s\u0131ras\u0131nda tedavi verilmesinin akci\u011ferler, pankreas ve \u00fcreme sistemi gibi organlar\u0131 erken hasardan koruyabilece\u011fini g\u00f6stermektedir. \u00d6rne\u011fin, CFTR mod\u00fclat\u00f6rleri ile tedaviyi takiben, baz\u0131 modellerde do\u011fumda pankreas fonksiyonunda iyile\u015fme ve mekonyum ileusu gibi komplikasyonlar\u0131n \u00e7ok daha d\u00fc\u015f\u00fck oranda g\u00f6r\u00fcld\u00fc\u011f\u00fc g\u00f6r\u00fclm\u00fc\u015ft\u00fcr. Bu sonu\u00e7lar insanlarda yap\u0131lan vaka \u00e7al\u0131\u015fmalar\u0131nda da rapor edilmi\u015ftir.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Gelecekte genetik tedavilerin rahimde uygulanmas\u0131 olas\u0131l\u0131\u011f\u0131n\u0131 g\u00f6z \u00f6n\u00fcnde bulundurdu\u011fumuzda, fetal ortam benzersiz avantajlar sunmaktad\u0131r. \u00d6rnek olarak, daha toleransl\u0131 bir ba\u011f\u0131\u015f\u0131kl\u0131k sistemi, k\u00f6k h\u00fccrelere daha kolay eri\u015fim ve tedavilerin daha az ila\u00e7la daha fazla dokuya ula\u015fmas\u0131n\u0131 sa\u011flayan daha k\u00fc\u00e7\u00fck bir v\u00fccut boyutu. Rahim i\u00e7inde (genellikle 2. trimesterde) KF tespit edilen fet\u00fcs i\u00e7in bu t\u00fcr bir tedavi, hamileli\u011fin erken d\u00f6nemlerinde meydana gelen hasar\u0131n bir k\u0131sm\u0131n\u0131 potansiyel olarak tersine \u00e7evirebilir ve daha fazla hasar olu\u015fmas\u0131n\u0131 \u00f6nleyebilir.<\/span><\/p>\n<div class=\"ee-bg-color\">\n<p><strong>Ger\u00e7ek D\u00fcnyaya Bir Bak\u0131\u015f: \u0130n Utero KF Tedavisi<\/strong><br>Bunun pratikte nas\u0131l g\u00f6r\u00fcnebilece\u011fini merak ediyor musunuz? Bir \u00e7ift, KF'li k\u0131zlar\u0131n\u0131n sa\u011fl\u0131k sonu\u00e7lar\u0131n\u0131 iyile\u015ftirmek i\u00e7in hamilelik s\u0131ras\u0131nda - t\u0131bbi g\u00f6zetim alt\u0131nda - CFTR mod\u00fclat\u00f6rlerini nas\u0131l kulland\u0131klar\u0131n\u0131 payla\u015ft\u0131. <span style=\"font-weight: 400;\"><a href=\"https:\/\/www.emilysentourage.org\/tr\/cf-before-birth-how-one-couple-used-modulators-for-in-utero-treatment-to-improve-health-outcomes-for-their-child\/\" target=\"_blank\" rel=\"noopener\">Onlar\u0131n hikayesini EE blogunda okuyun.<\/a><\/span><\/p>\n<\/div>\n<h3><b>4. Klinik \u00c7al\u0131\u015fmalar Halihaz\u0131rda Devam Ediyor<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">\u015eu anda aktif olarak i\u015fe al\u0131nan veya devam eden genetik terapi denemeleri her zamankinden daha fazlad\u0131r. Bu \u00e7al\u0131\u015fmalar, LNP ile iletilen mRNA terapileri, DNA iletimi ve d\u00fczeltilmi\u015f genetik talimatlar\u0131 h\u00fccrelere ta\u015f\u0131mak i\u00e7in tasarlanm\u0131\u015f \u00e7e\u015fitli viral vekt\u00f6rler dahil olmak \u00fczere bir dizi yakla\u015f\u0131m\u0131 kapsamaktad\u0131r.&nbsp;<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Daha da \u00f6nemlisi, bu tedavilerin \u00e7o\u011fu <\/span><b>mutasyon-agnostik<\/b><span style=\"font-weight: 400;\">Yani mutasyondan ba\u011f\u0131ms\u0131z olarak t\u00fcm KF'li insanlar i\u00e7in etkili olmay\u0131 ama\u00e7lamaktad\u0131rlar. Bu ayn\u0131 zamanda nadir ve anlams\u0131z mutasyonlara sahip olanlar gibi mevcut CFTR mod\u00fclat\u00f6rlerinden fayda g\u00f6rmeyenleri de kapsamaktad\u0131r. Bu denemeler hen\u00fcz erken a\u015famalarda ve sonu\u00e7lar belirsiz ve zaman alacak olsa da, \u015fu anda denemelerde test ediliyor olmalar\u0131, \u00f6zellikle uzun s\u00fcredir se\u00e7eneksiz kalan son 10%'dekiler i\u00e7in ger\u00e7ek bir ilerleme ve umudu temsil ediyor.<\/span><\/p>\n<h3><b>5. Dikkate Al\u0131nmas\u0131 Gereken \u00c7ok \u015eey Var - Ve Bu Sorun De\u011fil<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">Bir gen terapisi denemesine kat\u0131lmay\u0131 se\u00e7mek ki\u015fisel bir karard\u0131r ve bir\u00e7ok hususu beraberinde getirir. G\u00fcvenlik, potansiyel faydalar ve dozaj hakk\u0131nda d\u00fc\u015f\u00fcnmenin yan\u0131 s\u0131ra, kat\u0131l\u0131mc\u0131lar pratik fakt\u00f6rleri de g\u00f6z \u00f6n\u00fcnde bulundurmal\u0131d\u0131r: i\u015ften veya okuldan uzak kalma s\u00fcresi, deneme alanlar\u0131na seyahat, \u00e7ocuk bak\u0131m\u0131, sa\u011fl\u0131k durumu veya mutasyon t\u00fcr\u00fcne g\u00f6re uygunluk ve mod\u00fclat\u00f6rler gibi mevcut tedaviler \u00fczerindeki potansiyel etkiler. Panelistler, sorular\u0131n ve endi\u015felerin olmas\u0131n\u0131n normal ve beklenen bir durum oldu\u011funu vurgulad\u0131lar.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Gibi ara\u00e7lar <\/span><a href=\"https:\/\/www.emilysentourage.org\/tr\/ctc\/\"><b>CF Clinical Trial Connect (CTC)<\/b><\/a><span style=\"font-weight: 400;\">-Emily's Entourage taraf\u0131ndan olu\u015fturulan k\u00fcresel bir hasta veri taban\u0131, bireylerin benzersiz profillerine g\u00f6re kendilerine uygun olabilecek deneme f\u0131rsatlar\u0131yla e\u015fle\u015fmelerine yard\u0131mc\u0131 olmak i\u00e7in tasarlanm\u0131\u015ft\u0131r. Bak\u0131m ekipleri, deneme koordinat\u00f6rleri ve toplum savunucular\u0131ndan al\u0131nan destekle birlikte bireyler, sa\u011fl\u0131k ve ya\u015fam tarz\u0131 ihtiya\u00e7lar\u0131na uygun bilin\u00e7li se\u00e7imler yapabilirler.<\/span><\/p>\n<p><span style=\"font-weight: 400;\"><br><\/span><\/p>\n<hr>\n<h2><b>Soru-Cevap \u00d6zeti: En S\u0131k Sorulan Sorular\u0131n\u0131z Yan\u0131tland\u0131<\/b><\/h2>\n<p><span style=\"font-weight: 400;\">A\u015fa\u011f\u0131da, etkinlikte sorulan kilit sorulardan bir derleme ve ele almaya zaman bulamad\u0131\u011f\u0131m\u0131z birka\u00e7 soru yer al\u0131yor; hepsi de uzman panelistlerimiz taraf\u0131ndan yan\u0131tland\u0131.<\/span><\/p>\n<h3><b>S: KF i\u00e7in neden hen\u00fcz gen tedavisi geli\u015ftirilmedi ve mevcut tedaviler hangi organlar\u0131 hedefliyor?<\/b><\/h3>\n<p><span style=\"font-weight: 400;\"><strong>A:<\/strong> KF i\u00e7in gen tedavisi \u00f6zellikle zordur \u00e7\u00fcnk\u00fc kal\u0131n mukus, iltihaplanma ve ba\u011f\u0131\u015f\u0131kl\u0131k savunmas\u0131 tedavilerin akci\u011ferlere ula\u015ft\u0131r\u0131lmas\u0131n\u0131 zorla\u015ft\u0131r\u0131r. Mevcut denemelerin \u00e7o\u011fu, KF'nin en \u015fiddetli semptomlara neden oldu\u011fu akci\u011ferlere odaklanmaktad\u0131r, ancak gelecekteki tedaviler pankreas veya karaci\u011fer gibi di\u011fer organlar\u0131 hedef alabilir.<\/span><\/p>\n<h3><b>S: Genetik tedaviler mutasyona \u00f6zg\u00fc m\u00fcd\u00fcr ve kalan 10% i\u00e7in tedavilere y\u00f6nelik ne gibi ilerlemeler kaydedilmektedir?<\/b><\/h3>\n<p><span style=\"font-weight: 400;\"><strong>A:<\/strong> Klinik \u00e7al\u0131\u015fmalardaki genetik tedavilerin hepsi olmasa da \u00e7o\u011fu mutasyondan ba\u011f\u0131ms\u0131zd\u0131r, yani son 10%'deki nadir ve anlams\u0131z mutasyonlar da dahil olmak \u00fczere t\u00fcm KF mutasyonlar\u0131 i\u00e7in i\u015fe yaramalar\u0131 gerekir. Temmuz 2025 itibariyle, gen terapisi, mRNA (her ikisi de mutasyondan ba\u011f\u0131ms\u0131z) ve antisens oligon\u00fckleotidler (mutasyona \u00f6zg\u00fc) gibi \u00e7ok say\u0131da genetik temelli tedavi \u015fu anda klinik denemelerdedir ve \u00f6n verilerin 12 ila 18 ay i\u00e7inde al\u0131nmas\u0131 beklenmektedir.<\/span><\/p>\n<h3><b>S: Kat\u0131l\u0131mc\u0131lar zaman taahh\u00fctleri, gelecekteki denemeler i\u00e7in uygunluk ve seyahat deste\u011fi a\u00e7\u0131s\u0131ndan ne beklemelidir?<\/b><\/h3>\n<p><span style=\"font-weight: 400;\"><strong>A:<\/strong> Deneme gereklilikleri de\u011fi\u015fiklik g\u00f6stermektedir: \u015fu anda test edilen mRNA tedavileri haftalar boyunca s\u0131k ziyaretler gerektirirken, test edilen gen tedavileri daha uzun takiplerle tek dozdur. Belirli denemelere kat\u0131lmak, \u00f6zellikle viral vekt\u00f6rler kullanan gen terapisi denemeleri olmak \u00fczere di\u011ferlerine uygunlu\u011fu etkileyebilir. Bir\u00e7ok deneme seyahat yard\u0131m\u0131 sunar ve kat\u0131l\u0131mc\u0131lar genellikle seyahat, konaklama ve i\u015ften izin i\u00e7in tazminat al\u0131rlar.<\/span><\/p>\n<h3><b>S: Genetik tedavilerin bilinen riskleri ve yan etkileri nelerdir ve bu tedaviler gerekti\u011finde birden fazla kez uygulanabilir mi?<\/b><\/h3>\n<p><span style=\"font-weight: 400;\"><strong>A:<\/strong> Riskler ve genetik tedavilerin yeniden uygulanabilmesi teknolojiye g\u00f6re de\u011fi\u015fmektedir. \u00d6rne\u011fin, lentivir\u00fcslerin kullan\u0131ld\u0131\u011f\u0131 denemeler tek bir dozdan uzun vadeli fayda sa\u011flamay\u0131 ama\u00e7lamakta, ancak gen entegrasyonundan kaynaklanan potansiyel nadir riskler nedeniyle 15 y\u0131ll\u0131k g\u00fcvenlik izlemesi gerektirmektedir. Gen d\u00fczenleme tedavileri i\u00e7in (hen\u00fcz klinik denemelerde de\u011fil CF), \u00f6zellikle uzun \u00f6m\u00fcrl\u00fc progenit\u00f6r h\u00fccreler ba\u015far\u0131yla hedeflenirse, tekrar dozlamaya ihtiya\u00e7 duyulup duyulmayaca\u011f\u0131 belirsizdir. Denemeler ilerledik\u00e7e bu cevaplar daha da netle\u015fecektir.<\/span><\/p>\n<h3><b>S: Viral olmayan bir\u00e7ok iletim y\u00f6ntemi ortaya \u00e7\u0131karken, neden hala viral vekt\u00f6rlerin pe\u015finden ko\u015fuluyor?<\/b><\/h3>\n<p><span style=\"font-weight: 400;\"><strong>A:<\/strong> Hem viral hem de viral olmayan iletim y\u00f6ntemlerinin art\u0131lar\u0131 ve eksileri vard\u0131r. Viral vekt\u00f6rler, KF d\u0131\u015f\u0131ndaki hastal\u0131klar i\u00e7in \u015fu anda onaylanm\u0131\u015f \u00e7ok say\u0131da genetik tedavinin temelini olu\u015fturmaktad\u0131r. \u0130nhalasyon i\u00e7in viral olmayan vekt\u00f6rler laboratuvar \u00e7al\u0131\u015fmalar\u0131nda umut vaat etmektedir ancak insanlardaki g\u00fcvenlikleri ve etkinlikleri hen\u00fcz kan\u0131tlanmam\u0131\u015ft\u0131r. Viral vekt\u00f6rler, baz\u0131 gen d\u00fczenleme yakla\u015f\u0131mlar\u0131 da dahil olmak \u00fczere belirli tedaviler i\u00e7in daha uygun olabilir. Klinik deneyler en iyi y\u00f6ntemleri netle\u015ftirecektir.<\/span><\/p>\n<h3><b>S: CFTR mod\u00fclat\u00f6rlerine k\u0131yasla genetik tedavi sonu\u00e7lar\u0131 i\u00e7in ger\u00e7ek\u00e7i beklentiler nelerdir ve bir tedavi i\u015fe yaramazsa ne olur?<\/b><\/h3>\n<p><span style=\"font-weight: 400;\"><strong>A:<\/strong> D\u00fczenleyici onay, erken d\u00f6nem CFTR mod\u00fclat\u00f6rlerine benzer \u015fekilde, FEV1'de yakla\u015f\u0131k 2-4% art\u0131\u015f gibi m\u00fctevaz\u0131 bir akci\u011fer fonksiyonu iyile\u015fmesi gerektirebilir. G\u00fcvenlik sorunlar\u0131 ortaya \u00e7\u0131karsa, ba\u011f\u0131ms\u0131z komiteler deneme ayarlamalar\u0131n\u0131 denetler. Bir tedavi fayda sa\u011flamazsa, ara\u015ft\u0131rmac\u0131lar da\u011f\u0131t\u0131m veya dozaj sorunlar\u0131 gibi nedenleri belirlemek i\u00e7in verileri analiz eder. Portf\u00f6y\u00fcm\u00fcz\u00fc \u00e7e\u015fitlendirmek ve ba\u015far\u0131 \u015fans\u0131m\u0131z\u0131 en \u00fcst d\u00fczeye \u00e7\u0131karmak i\u00e7in birden fazla terap\u00f6tik yakla\u015f\u0131m\u0131 takip etmek \u00f6nemlidir.<\/span><\/p>\n<h3><b>S: Gen tedavilerine k\u00fcresel eri\u015fim konuma g\u00f6re nas\u0131l de\u011fi\u015fiyor?<\/b><\/h3>\n<p><span style=\"font-weight: 400;\"><strong>A<\/strong>: KF gen tedavilerine eri\u015fimin k\u00fcresel olarak nas\u0131l de\u011fi\u015fece\u011fini tam olarak bilmek i\u00e7in muhtemelen \u00e7ok erken. Ancak, di\u011fer hastal\u0131klara y\u00f6nelik gen tedavilerine bak\u0131ld\u0131\u011f\u0131nda, baz\u0131 sponsorlar\u0131n daha geni\u015f uluslararas\u0131 eri\u015fimi destekleyecek mekanizmalar\u0131 ara\u015ft\u0131rmaya ba\u015flad\u0131klar\u0131 g\u00f6r\u00fclmektedir.<\/span><\/p>\n<h3><b>S: \u015eu anda KF akci\u011fer hastal\u0131\u011f\u0131 i\u00e7in kullan\u0131lan inhale ENaC blokerleri var m\u0131?<\/b><\/h3>\n<p><span style=\"font-weight: 400;\"><strong>A:<\/strong> \u015eu anda, KF akci\u011fer hastal\u0131\u011f\u0131n\u0131n tedavisi i\u00e7in hi\u00e7bir inhale ENaC blokeri onaylanmam\u0131\u015ft\u0131r.<\/span><\/p>\n<p><span style=\"font-weight: 400;\"><br><\/span><\/p>\n<hr>\n<h2><b>Ger\u00e7ek Umut, Ger\u00e7ek \u0130\u015f \u00d6n\u00fcm\u00fczde<\/b><\/h2>\n<p><span style=\"font-weight: 400;\">Son 10%, CFTR mod\u00fclat\u00f6rlerinin kullan\u0131lmaya ba\u015flanmas\u0131yla KF'li arkada\u015flar\u0131n\u0131n hayatlar\u0131n\u0131n radikal bir \u015fekilde de\u011fi\u015fmesini izlerken y\u0131llarca umutla, \u00f6zlemle ve tahamm\u00fclle bekledi. Gen terapisi yak\u0131nd\u0131 ama tam olarak burada de\u011fildi. Ama \u015fimdi bu durum de\u011fi\u015fiyor.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Cevaplanmas\u0131 gereken sorular, tamamlanmas\u0131 gereken denemeler, \u00e7\u00f6z\u00fclmesi gereken zorluklar gibi daha yap\u0131lacak \u00e7ok i\u015f var. Ancak ger\u00e7ek se\u00e7enekler ortaya \u00e7\u0131k\u0131yor ve mevcut KF tedavi ortam\u0131n\u0131 stat\u00fcko olarak kabul etmeyi reddeden parlak bilim insanlar\u0131, kendini i\u015fine adam\u0131\u015f klinisyenler ve cesur, diren\u00e7li KF'li insanlar taraf\u0131ndan y\u00f6nlendirilen bir ivme olu\u015fuyor.&nbsp;<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Emily's Entourage'da, \u00f6n\u00fcm\u00fczdeki at\u0131l\u0131mlar, de\u011fi\u015ftirecekleri hayatlar ve kimsenin geride kalmamas\u0131 gerekti\u011fi inanc\u0131 i\u00e7in ileriye do\u011fru yar\u0131\u015f\u0131yoruz. Oraya yeterince h\u0131zl\u0131 varmam\u0131z m\u00fcmk\u00fcn de\u011fil.&nbsp;<\/span><\/p><p><span style=\"font-weight: 400;\"><br><\/span><\/p>\n<hr>\n<h2><b>Webinar\u0131n Tamam\u0131n\u0131 \u0130zleyin<\/b><\/h2>\n<p><span style=\"font-weight: 400;\">Etkinli\u011fi ka\u00e7\u0131rd\u0131ysan\u0131z veya \u00f6nemli anlar\u0131 yeniden izlemek istiyorsan\u0131z <\/span><b>kayitlarin tamami yayinda<\/b><span style=\"font-weight: 400;\">:<\/span><span style=\"font-weight: 400;\"><br><\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-5f83fce e-flex e-con-boxed e-con e-parent\" data-id=\"5f83fce\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-fb081b5 elementor-widget elementor-widget-video\" data-id=\"fb081b5\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;youtube_url&quot;:&quot;https:\\\/\\\/youtu.be\\\/9gEdp0w_5iE&quot;,&quot;cc_load_policy&quot;:&quot;yes&quot;,&quot;video_type&quot;:&quot;youtube&quot;,&quot;controls&quot;:&quot;yes&quot;}\" data-widget_type=\"video.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-wrapper elementor-open-inline\">\n\t\t\t<div class=\"elementor-video\"><\/div>\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>Genetik tedavi geli\u015ftirme potansiyeli y\u0131llard\u0131r kistik fibrozis (KF) toplulu\u011fu i\u00e7in, \u00f6zellikle de mevcut CFTR mod\u00fclat\u00f6rlerinden fayda g\u00f6rmeyen son 10% grubundakiler i\u00e7in temkinli bir umut kayna\u011f\u0131 olmu\u015ftur. Y\u0131llar i\u00e7inde ara\u015ft\u0131rmalar \u00f6nemli \u00f6l\u00e7\u00fcde ilerlemi\u015f ve son zamanlarda \u00e7ok say\u0131da genetik tedavi klinik deneylere kadar ilerlemi\u015ftir. T\u00fcm bunlarla birlikte... <\/p>\n<div class=\"clear\"><\/div>\n<p><a href=\"https:\/\/www.emilysentourage.org\/tr\/genetic-therapies-for-the-final-10-whats-coming-into-focus\/\" class=\"excerpt-read-more\">Daha fazla bilgi edinin<\/a><\/p>","protected":false},"author":1719,"featured_media":25753,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_seopress_titles_title":"Cystic Fibrosis >> Genetic Therapies for the Final 10%: What's Coming Into Focus?","_seopress_titles_desc":"%%post_excerpt%%","_seopress_robots_index":"","_seopress_robots_follow":"","_seopress_robots_imageindex":"","_seopress_robots_snippet":"","_seopress_robots_primary_cat":"none","_seopress_robots_breadcrumbs":"","_seopress_robots_freeze_modified_date":"","_seopress_robots_custom_modified_date":"","_seopress_robots_canonical":"","_seopress_social_fb_title":"","_seopress_social_fb_desc":"","_seopress_social_fb_img":"","_seopress_social_fb_img_attachment_id":0,"_seopress_social_fb_img_width":0,"_seopress_social_fb_img_height":0,"_seopress_social_twitter_title":"","_seopress_social_twitter_desc":"","_seopress_social_twitter_img":"","_seopress_social_twitter_img_attachment_id":0,"_seopress_social_twitter_img_width":0,"_seopress_social_twitter_img_height":0,"_seopress_redirections_value":"","_seopress_redirections_enabled":"","_seopress_redirections_enabled_regex":"","_seopress_redirections_logged_status":"both","_seopress_redirections_param":"","_seopress_redirections_type":301,"_seopress_analysis_target_kw":"","_seopress_news_disabled":"","_seopress_video_disabled":"","_seopress_video":[],"_seopress_pro_schemas_manual":[],"_seopress_pro_rich_snippets_disable_all":"","_seopress_pro_rich_snippets_disable":[],"_seopress_pro_schemas":[],"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_feature_clip_id":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_post_was_ever_published":false},"categories":[1],"tags":[240,242,188,241,239],"class_list":["post-25731","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized","tag-cf-breakthroughs","tag-event-recap","tag-gene-therapy","tag-gene-therapy-webinar","tag-genetic-therapy"],"acf":[],"jetpack_featured_media_url":"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/WordPress-Featured-Image-3.png","jetpack_sharing_enabled":true,"post_mailing_queue_ids":[],"_links":{"self":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/25731","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/users\/1719"}],"replies":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/comments?post=25731"}],"version-history":[{"count":5,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/25731\/revisions"}],"predecessor-version":[{"id":25754,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/25731\/revisions\/25754"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media\/25753"}],"wp:attachment":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media?parent=25731"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/categories?post=25731"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/tags?post=25731"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}