{"id":3482,"date":"2025-06-14T15:25:00","date_gmt":"2025-06-14T13:25:00","guid":{"rendered":"https:\/\/remeds.org\/?p=3482"},"modified":"2025-11-14T09:19:28","modified_gmt":"2025-11-14T08:19:28","slug":"survey-results-the-global-mecp2-duplication-community-speaks","status":"publish","type":"post","link":"https:\/\/remeds.org\/tr\/2025\/06\/14\/survey-results-the-global-mecp2-duplication-community-speaks\/","title":{"rendered":"Anket sonu\u00e7lar\u0131: K\u00fcresel MECP2 Duplikasyon toplulu\u011fu konu\u015fuyor"},"content":{"rendered":"

MECP2 Duplikasyon Sendromu \u00fczerine yap\u0131lan ara\u015ft\u0131rmalar benzeri g\u00f6r\u00fclmemi\u015f bir ad\u0131m att\u0131: Klinik \u00e7al\u0131\u015fmalar d\u00fcnyas\u0131na girdi. Bu, y\u0131llard\u0131r \u00e7ocuklar\u0131na daha iyi bir gelecek sa\u011flamak i\u00e7in yorulmadan \u00e7al\u0131\u015fan bir\u00e7ok aile i\u00e7in bir umut \u0131\u015f\u0131\u011f\u0131d\u0131r.<\/p>\n\n\n\n

ABD\u2019de ATTUNE (Ionis - ION440) ve \u00c7in\u2019de HERO (HuidaGene - HG204) gibi erken a\u015fama klinik \u00e7al\u0131\u015fmalar\u0131n ba\u015flat\u0131lmas\u0131yla, tedavi aray\u0131\u015f\u0131nda tarihi bir ana tan\u0131kl\u0131k ediyoruz. Bu Faz 1\/2 \u00e7al\u0131\u015fmalar\u0131, ara\u015ft\u0131rma ila\u00e7lar\u0131n\u0131n g\u00fcvenli olup olmad\u0131\u011f\u0131n\u0131 ve potansiyel olarak etkili olup olmad\u0131\u011f\u0131n\u0131 belirlemeye yard\u0131mc\u0131 olacak. Ancak bunlar sadece bir ba\u015flang\u0131\u00e7.<\/p>\n\n\n\n

Bir sonraki ad\u0131mlara \u2013 daha b\u00fcy\u00fck, ileri a\u015fama \u00e7al\u0131\u015fmalara \u2013 haz\u0131rlanmak i\u00e7in Mart 2024\u2019te k\u00fcresel bir anket ba\u015flatt\u0131k. Amac\u0131, d\u00fcnya genelinde aileler aras\u0131ndaki ilgi ve haz\u0131rl\u0131\u011f\u0131 belirlemekti, b\u00f6ylece mevcut \u00e7al\u0131\u015fmalar umut verici sonu\u00e7lar g\u00f6sterirse, klinik \u00e7al\u0131\u015fma tasar\u0131m\u0131, planlama ve saha se\u00e7imi i\u00e7in sonraki ad\u0131mlar\u0131 destekleyebiliriz. Anket, farkl\u0131 k\u0131talardan 94 aileden yan\u0131t toplad\u0131.<\/p>\n\n\n\n

Kat\u0131l\u0131m i\u00e7in zaman ay\u0131ran t\u00fcm ailelere i\u00e7tenlikle te\u015fekk\u00fcr ederiz. <\/strong>Her yan\u0131t, toplumdan de\u011ferli bilgiler toplamam\u0131za ve nihayetinde toplumu daha iyi desteklememize yard\u0131mc\u0131 oluyor.<\/p>\n\n\n\n

Sizi a\u015fa\u011f\u0131da \u00f6zetlenen anket sonu\u00e7lar\u0131n\u0131 incelemeye davet ediyoruz.<\/p>\n\n\n\n

<\/a><\/p>\n\n\n\n

\"\"<\/figure>\n\n\n\n

D\u00fcnya genelinden toplam 94 aile ankete kat\u0131ld\u0131; bu da klinik \u00e7al\u0131\u015fmalara kat\u0131l\u0131m konusunda g\u00fc\u00e7l\u00fc bir k\u00fcresel ilgi oldu\u011funu g\u00f6steriyor. Yan\u0131tlar\u0131n \u00e7o\u011fu Avrupa ve Kuzey Amerika\u2019dan geldi. Kat\u0131l\u0131mc\u0131lar\u0131n \u2019i erkek \u00e7ocuklar\u0131n, %9\u2019u ise k\u0131z \u00e7ocuklar\u0131n ebeveynleri veya bak\u0131c\u0131lar\u0131yd\u0131. Ankette temsil edilen \u00e7ocuklar\u0131n ya\u015flar\u0131 0 ile 34 aras\u0131nda de\u011fi\u015fiyor.<\/p>\n\n\n\n

\"\"
Klinik \u00e7al\u0131\u015fmaya kat\u0131lma isteklili\u011fi: <\/strong>Her kat\u0131l\u0131mc\u0131 yaln\u0131zca bir cevap se\u00e7ebildi. Y\u00fczdeler 94 kat\u0131l\u0131mc\u0131ya dayanmaktad\u0131r.<\/em><\/figcaption><\/figure>\n\n\n\n

Cinsiyet, ya\u015f veya co\u011frafi da\u011f\u0131l\u0131mdan ba\u011f\u0131ms\u0131z olarak, kat\u0131l\u0131mc\u0131lar\u0131n \u00e7o\u011funlu\u011fu () \u00e7ocuklar\u0131n\u0131 bir klinik \u00e7al\u0131\u015fmaya kaydettirme konusunda g\u00fc\u00e7l\u00fc bir istek beyan etti. karars\u0131zd\u0131 ve %4 kat\u0131lmak istemedi.<\/p>\n\n\n\n

\"\"
\u00c7al\u0131\u015fmaya kat\u0131l\u0131m\u0131 etkileyen temel fakt\u00f6rler: <\/strong>Her bir kat\u0131l\u0131mc\u0131 birden fazla fakt\u00f6r se\u00e7ebilmi\u015ftir. Daire b\u00fcy\u00fckl\u00fc\u011f\u00fc ve y\u00fczdeler, her bir se\u00e7ene\u011fi i\u015faretleyen toplam kat\u0131l\u0131mc\u0131lar\u0131n (n=94) oran\u0131n\u0131 temsil etmektedir.<\/em><\/figcaption><\/figure>\n\n\n\n

Bu ilgiyi etkileyen unsurlar\u0131 daha iyi anlamak i\u00e7in, ailelerden \u00e7ocuklar\u0131n\u0131 klinik bir \u00e7al\u0131\u015fmaya kaydettirme karar\u0131nda g\u00f6z \u00f6n\u00fcnde bulundurduklar\u0131 temel fakt\u00f6rleri belirtmeleri istendi. En s\u0131k se\u00e7ilen endi\u015fe, tedavi veya prosed\u00fcrdeki riskti (94 kat\u0131l\u0131mc\u0131dan 86\u2019s\u0131, ). Bunun hemen ard\u0131ndan tedavinin potansiyel faydas\u0131 geldi (94 kat\u0131l\u0131mc\u0131dan 77\u2019si, ). \u00c7al\u0131\u015fman\u0131n yeri (60 yan\u0131t, ), seyahat ve konaklama deste\u011fi (47 yan\u0131t, ) ve \u00e7al\u0131\u015fma s\u00fcresi (37 yan\u0131t, ) daha az s\u0131kl\u0131kla se\u00e7ildi.<\/p>\n\n\n\n

Sonu\u00e7<\/strong><\/p>\n\n\n\n

Bu anketin sonu\u00e7lar\u0131, MECP2 Duplikasyon Sendromundan etkilenen ailelerin bak\u0131\u015f a\u00e7\u0131lar\u0131 ve \u00f6ncelikleri hakk\u0131nda de\u011ferli bilgiler sa\u011flamaktad\u0131r. Ya\u015f, cinsiyet ve co\u011frafyadaki farkl\u0131l\u0131klara ra\u011fmen, ailelerin b\u00fcy\u00fck bir \u00e7o\u011funlu\u011fu klinik \u00e7al\u0131\u015fmalara kat\u0131lma iste\u011fi beyan etti.<\/p>\n\n\n\n

Karar verme s\u00fcrecinde en \u00f6nemli fakt\u00f6rler risk ve potansiyel fayda olurken, konum, seyahat ve \u00e7al\u0131\u015fma s\u00fcresi gibi lojistik konular - daha az kritik olsa da - \u00f6nemli hususlar olmaya devam etmektedir.<\/p>\n\n\n\n

ATTUNE ve HERO denemeleri \u015fu anda ilk insan verilerini toplarken, bu sorular\u0131n ve endi\u015felerin baz\u0131lar\u0131n\u0131n zaman i\u00e7inde ele al\u0131naca\u011f\u0131n\u0131 umuyoruz.<\/p>\n\n\n\n

Bu arada, toplulu\u011fumuz \u015fimdiden bir sonraki ad\u0131mlara haz\u0131rlanmal\u0131d\u0131r. Erken \u00e7al\u0131\u015fma sonu\u00e7lar\u0131 umut verici olursa, daha ileri a\u015fama \u00e7al\u0131\u015fmalar ve k\u00fcresel eri\u015fim i\u00e7in daha geni\u015f kat\u0131l\u0131m hayati \u00f6nem ta\u015f\u0131yacakt\u0131r. Bu anket, ailelerin nerede oldu\u011funu, ne t\u00fcr deste\u011fe ihtiya\u00e7 duyduklar\u0131n\u0131 ve kat\u0131lmaya ne kadar istekli olduklar\u0131n\u0131 anlayarak bu haz\u0131rl\u0131\u011f\u0131 desteklemek i\u00e7in tasarlanm\u0131\u015ft\u0131r.<\/p>\n\n\n\n

Bu anket sadece verilerden ibaret de\u011fildir; ayn\u0131 zamanda ilerlemeye do\u011fru bir sonraki ad\u0131mlar\u0131 atmaya haz\u0131r, kararl\u0131 ve k\u00fcresel olarak ba\u011fl\u0131 bir toplulu\u011fun yans\u0131mas\u0131d\u0131r. Hen\u00fcz kat\u0131lmam\u0131\u015f olan aileler i\u00e7in anket h\u00e2l\u00e2 a\u00e7\u0131kt\u0131r. Sesinizi duyurmak ve klinik ara\u015ft\u0131rmalar\u0131n gelece\u011fini \u015fekillendirmeye yard\u0131mc\u0131 olmak i\u00e7in asla ge\u00e7 de\u011fildir.<\/p>\n\n\n\n

Ankete kat\u0131l\u0131n<\/a><\/p>","protected":false},"excerpt":{"rendered":"

Research on MECP2 Duplication Syndrome has taken an unprecedented step: entering the world of clinical trials. This is a spark of hope for many families who have worked tirelessly for years to provide a better future for their children. With the launch of early-stage clinical trials such as ATTUNE (ION440 by Ionis) in the U.S. […]<\/p>\n","protected":false},"author":114,"featured_media":3557,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jf_save_progress":"","footnotes":""},"categories":[23],"tags":[],"class_list":["post-3482","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-survey"],"_links":{"self":[{"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/posts\/3482","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/users\/114"}],"replies":[{"embeddable":true,"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/comments?post=3482"}],"version-history":[{"count":5,"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/posts\/3482\/revisions"}],"predecessor-version":[{"id":3496,"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/posts\/3482\/revisions\/3496"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/media\/3557"}],"wp:attachment":[{"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/media?parent=3482"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/categories?post=3482"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/remeds.org\/tr\/wp-json\/wp\/v2\/tags?post=3482"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}