{"id":14147,"date":"2020-02-20T18:08:12","date_gmt":"2020-02-20T23:08:12","guid":{"rendered":"https:\/\/www.emilysentourage.org\/?p=14147"},"modified":"2020-02-20T18:08:12","modified_gmt":"2020-02-20T23:08:12","slug":"north-american-cf-conference-2019-advances-for-nonsense-mutations-of-cf","status":"publish","type":"post","link":"https:\/\/www.emilysentourage.org\/tr\/north-american-cf-conference-2019-advances-for-nonsense-mutations-of-cf\/","title":{"rendered":"Kuzey Amerika KF Konferans\u0131 2019: KF'nin Sa\u00e7ma Mutasyonlar\u0131 i\u00e7in Geli\u015fmeler"},"content":{"rendered":"<p>Emily's Entourage (EE) 31 Ekim - 2 Kas\u0131m 2019 tarihleri aras\u0131nda Nashville, TN'de d\u00fczenlenen Kuzey Amerika Kistik Fibrozis Konferans\u0131'na (NACFC) kat\u0131ld\u0131. Kistik Fibrozis Vakf\u0131 (CFF) taraf\u0131ndan her y\u0131l d\u00fczenlenen bu konferans, 5.000'den fazla Kistik Fibrozis (KF) klinisyenini, ara\u015ft\u0131rmac\u0131s\u0131n\u0131 ve bak\u0131c\u0131s\u0131n\u0131 en son KF ara\u015ft\u0131rmalar\u0131n\u0131, bak\u0131m\u0131n\u0131 ve ila\u00e7 geli\u015ftirmeyi tart\u0131\u015fmak \u00fczere tek bir alanda bir araya getirdi. Konferans, KF'li ki\u015filerin sa\u011fl\u0131\u011f\u0131n\u0131 ve zindeli\u011fini iyile\u015ftirmek i\u00e7in fikir al\u0131\u015fveri\u015fine odakland\u0131.<\/p>\n<p>33. NACFC, KF tarihinde \u00f6zellikle ayr\u0131lmaz bir ana denk geldi. 21 Ekim 2019'da G\u0131da ve \u0130la\u00e7 \u0130daresi, Vertex Pharmaceuticals taraf\u0131ndan geli\u015ftirilen ve en yayg\u0131n KF mutasyonu olan F508del'in en az bir kopyas\u0131na sahip olan 12 ya\u015f ve \u00fczeri KF pop\u00fclasyonunun 90%'si i\u00e7in merakla beklenen \u00fc\u00e7l\u00fc kombinasyon tedavisi TRIKAFTA\u2122'n\u0131n onayland\u0131\u011f\u0131n\u0131 duyurdu. TRIKAFTA\u2122 \u00fc\u00e7 CFTR mod\u00fclat\u00f6r\u00fcn\u00fcn bir kombinasyonudur (\"\u00fc\u00e7l\u00fc kombinasyon\" tedavisi). \u00dc\u00e7 ila\u00e7 birlikte, Faz 3 denemesinde ortalama akci\u011fer fonksiyonunu 13,8% art\u0131rarak t\u00fcm beklentileri a\u015fm\u0131\u015f ve akci\u011fer fonksiyonunu KF toplulu\u011fundaki bir\u00e7ok ki\u015finin on y\u0131llard\u0131r deneyimlemedi\u011fi bir seviyeye getirmi\u015ftir.<\/p>\n<p><img fetchpriority=\"high\" decoding=\"async\" class=\"size-full wp-image-14155 aligncenter\" src=\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/EEReception_Crowd1.jpg\" alt=\"\" width=\"900\" height=\"563\" srcset=\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/EEReception_Crowd1.jpg 900w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/EEReception_Crowd1-300x188.jpg 300w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/EEReception_Crowd1-768x480.jpg 768w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/EEReception_Crowd1-600x375.jpg 600w\" sizes=\"(max-width: 900px) 100vw, 900px\" \/><\/p>\n<p>EE'nin at\u0131l\u0131mlar\u0131 h\u0131zland\u0131rma ve KF'nin sa\u00e7ma mutasyonlar\u0131 i\u00e7in bir tedavi bulma y\u00f6n\u00fcndeki lazer odakl\u0131 misyonunun \u00f6nemi ve aciliyeti, konferans boyunca yap\u0131lan tart\u0131\u015fmalarda her zamankinden daha belirgin hale geldi. TRIKAFTA\u2122'n\u0131n s\u0131n\u0131rlar\u0131 tart\u0131\u015fmalar\u0131n odak noktas\u0131yd\u0131 ve iki sa\u00e7ma mutasyona sahip olanlar da dahil olmak \u00fczere TRIKAFTA\u2122'dan yararlanamayacak olan 10% d\u0131\u015f\u0131ndakiler i\u00e7in tedaviler geli\u015ftirmeye y\u00f6nelik acil ihtiyac\u0131 peki\u015ftirdi. Birden fazla oturumda, hayat kurtar\u0131c\u0131 tedavileri bulunmayan veya ge\u00e7 a\u015fama klinik \u00e7al\u0131\u015fmalarda bulunanlar i\u00e7in at\u0131l\u0131mlar\u0131 h\u0131zland\u0131rmaya y\u00f6nelik ara\u015ft\u0131rmalar sunuldu.<\/p>\n<p>NACFC'de sunulan a\u015fa\u011f\u0131daki tedaviler KF'nin nonsense mutasyonlar\u0131 ile do\u011frudan ilgilidir:<\/p>\n<ul>\n<li><strong>Eloxx Pharmaceuticals<\/strong> KF'nin nonsense mutasyonlar\u0131na sahip bireyler i\u00e7in faz 2 klinik \u00e7al\u0131\u015fmalar\u0131nda k\u00fc\u00e7\u00fck molek\u00fcll\u00fc bir tedavi olan \"readthrough\" ajan\u0131 ELX-02'yi sundu. KF'nin anlams\u0131z mutasyonlar\u0131na sahip olanlar, v\u00fccudun h\u00fccre i\u00e7indeki klor\u00fcr\u00fc d\u00fczenleme yetene\u011fini engelleyen tam uzunlukta, tamamen i\u015flevsel bir CFTR proteini \u00fcretmezler. ELX-02'nin \u00e7al\u0131\u015fma \u015fekli, akci\u011ferler gibi hastal\u0131ktan etkilenen organlarda CFTR i\u015flevini k\u0131smen geri kazanmak i\u00e7in tam uzunlukta CFTR proteininin \u00fcretimini te\u015fvik etmektir. ELX-02, model sistemlerde klinik deneylere ilerlemesini destekleyen ikna edici bir etkinlik g\u00f6stermi\u015ftir. Faz 1 klinik denemeleri ba\u015far\u0131l\u0131 bir \u015fekilde g\u00fcvenli\u011fe odaklanm\u0131\u015ft\u0131r ve mevcut faz 2 klinik denemeleri \u00f6zellikle G542X anlams\u0131z mutasyonunun neden oldu\u011fu KF'ye odaklanmaktad\u0131r.<\/li>\n<li><strong>Biyografiyi \u00c7evir<\/strong> faz 1\/2 klinik \u00e7al\u0131\u015fmalar\u0131nda olan KF i\u00e7in haberci RNA tabanl\u0131 terap\u00f6tik yakla\u015f\u0131mlar\u0131 MRT5005'i sundu. Haberci RNA'lar (mRNA'lar) gen taraf\u0131ndan kodlanm\u0131\u015f bilgileri protein \u00fcreten h\u00fccrelere aktaran arac\u0131lar olarak g\u00f6rev yapar. MRT5005, mutasyon i\u00e7eren etkilenmi\u015f mRNA'lar\u0131n yerine normal CFTR proteinini \u00fcretebilen terap\u00f6tik mRNA'lar\u0131 kullan\u0131r. Translate Bio'nun yakla\u015f\u0131m\u0131 mutasyon-agnostik bir yakla\u015f\u0131md\u0131r, yani spesifik genetik mutasyonlar\u0131na bak\u0131lmaks\u0131z\u0131n KF'li herkese fayda sa\u011flayabilir.<\/li>\n<li><strong>Enterprise Therapeutics<\/strong> yak\u0131nda faz 1 klinik deneylere ge\u00e7meyi umarak klinik \u00f6ncesi geli\u015ftirme a\u015famas\u0131nda olan TMEM16A g\u00fc\u00e7lendiricisini sundu. TMEM16A hava yollar\u0131nda alternatif bir klor\u00fcr kanal\u0131 olarak g\u00f6rev yapar ve kaybedilen CFTR aktivitesini telafi ederek normal akci\u011fer fonksiyonunu ve bakteriyel enfeksiyonlar\u0131n temizlenmesini sa\u011flayabilir. Translate Bio'nun yakla\u015f\u0131m\u0131na benzer \u015fekilde, bu tedavi mutasyon-agnostiktir ve mutasyonlar\u0131ndan ba\u011f\u0131ms\u0131z olarak KF'li herkese fayda sa\u011flayabilir.<\/li>\n<\/ul>\n<p><img decoding=\"async\" class=\"size-full wp-image-14156 aligncenter\" src=\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/EEReception_EmilySpeaking.jpg\" alt=\"\" width=\"900\" height=\"563\" srcset=\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/EEReception_EmilySpeaking.jpg 900w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/EEReception_EmilySpeaking-300x188.jpg 300w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/EEReception_EmilySpeaking-768x480.jpg 768w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/EEReception_EmilySpeaking-600x375.jpg 600w\" sizes=\"(max-width: 900px) 100vw, 900px\" \/><\/p>\n<p>NACFC'deki bilgilendirici ve ilham verici oturumlar\u0131 tamamlayan EE, 1 Kas\u0131m'da 90'dan fazla KF bilim insan\u0131, ara\u015ft\u0131rmac\u0131 ve bak\u0131c\u0131 i\u00e7in 4. Y\u0131ll\u0131k, yaln\u0131zca davetli NACFC Kokteyl Resepsiyonunu d\u00fczenlemekten heyecan duydu. Bu etkinlik, EE'nin y\u0131ll\u0131k ilerlemesini payla\u015fmas\u0131, ara\u015ft\u0131rmac\u0131lar\u0131n ilerlemeleri hakk\u0131nda bilgi edinmesi ve en \u00f6nemlisi EE bilim toplulu\u011funu kutlamas\u0131 ve onurland\u0131rmas\u0131 i\u00e7in bir mekan olarak hizmet etti. Etkinli\u011fe \u00fcst d\u00fczey ara\u015ft\u0131rmac\u0131lar, klinisyenler, neredeyse t\u00fcm b\u00fcy\u00fck KF biyoteknoloji \u015firketleri ve CFF liderli\u011fi kat\u0131ld\u0131 ve misyonumuza olan ortak ba\u011fl\u0131l\u0131klar\u0131n\u0131 yans\u0131tt\u0131.<\/p>\n<p>EE, KF'nin nonsense mutasyonlar\u0131na sahip olanlar da dahil olmak \u00fczere son 10% i\u00e7in tedavilerin geli\u015ftirilmesini h\u0131zland\u0131rma konusundaki \u0131srar\u0131 i\u00e7in t\u00fcm KF ara\u015ft\u0131rma toplulu\u011funa minnettard\u0131r. Onlar\u0131n kararl\u0131l\u0131\u011f\u0131 NACFC'de g\u00f6sterilmi\u015f ve g\u00fc\u00e7l\u00fc bir \u015fekilde hissedilmi\u015ftir. EE, bu terap\u00f6tikleri m\u00fcmk\u00fcn olan en k\u0131sa s\u00fcrede ger\u00e7e\u011fe d\u00f6n\u00fc\u015ft\u00fcrmek i\u00e7in bilimsel i\u015fbirli\u011fini, ara\u015ft\u0131rmay\u0131 ve ila\u00e7 geli\u015ftirmeyi kolayla\u015ft\u0131rmaya kararl\u0131d\u0131r.<\/p>","protected":false},"excerpt":{"rendered":"<p>Emily\u2019s Entourage (EE) attended the North American Cystic Fibrosis Conference (NACFC) in Nashville, TN from October 31 to November 2, 2019. This conference, held annually by the Cystic Fibrosis Foundation (CFF), brought together over 5,000 Cystic Fibrosis (CF) clinicians, researchers, and caregivers in one space to discuss the latest CF research, care, and drug development&#8230;. <\/p>\n<div class=\"clear\"><\/div>\n<p><a href=\"https:\/\/www.emilysentourage.org\/tr\/north-american-cf-conference-2019-advances-for-nonsense-mutations-of-cf\/\" class=\"excerpt-read-more\">Daha fazla bilgi edinin<\/a><\/p>","protected":false},"author":1704,"featured_media":14155,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_seopress_robots_primary_cat":"none","_seopress_titles_title":"","_seopress_titles_desc":"","_seopress_robots_index":"","_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-14147","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"jetpack_featured_media_url":"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/EEReception_Crowd1.jpg","jetpack_sharing_enabled":true,"post_mailing_queue_ids":[],"_links":{"self":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/14147","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\/1704"}],"replies":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/comments?post=14147"}],"version-history":[{"count":5,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/14147\/revisions"}],"predecessor-version":[{"id":14260,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/14147\/revisions\/14260"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media\/14155"}],"wp:attachment":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media?parent=14147"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/categories?post=14147"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/tags?post=14147"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}