Gazi \u00dcniversitesi T\u0131p Fak\u00fcltesi Hastanesi Faz-1 Klinik Ara\u015ft\u0131rma Merkezi, kal\u0131c\u0131 beyin hasar\u0131na yol a\u00e7abilen fenilketon\u00fcriye kar\u015f\u0131 gen tedavisini d\u00fcnyada ilk kez, \u00e7ocuklarda hayati risk yaratan GM1 Gangliosidosis’te ameliyats\u0131z beyin i\u00e7i gen tedavi y\u00f6ntemini de T\u00fcrkiye’de ilk kez ba\u015far\u0131yla uygulad\u0131.<\/p>\n
\u00c7ocuk Genetik Bilim Dal\u0131 Ba\u015fkan\u0131 ve Faz-1 Klinik Ara\u015ft\u0131rma Merkezi M\u00fcd\u00fcr Yard\u0131mc\u0131s\u0131 Prof. Dr. Fatih Ezg\u00fc, yakla\u015f\u0131k 1 y\u0131l \u00f6nce faaliyete ge\u00e7irilen merkezde y\u00fcr\u00fct\u00fclen \u00e7al\u0131\u015fmalara ili\u015fkin, AA muhabirine a\u00e7\u0131klamalarda bulundu.<\/p>\n
Merkezin \u00f6zellikle yeni ve kal\u0131c\u0131 tedavilere ihtiya\u00e7 duyulan \u00e7ocukluk \u00e7a\u011f\u0131 genetik hastal\u0131klar\u0131nda, T\u00fcrkiye’nin ilk ileri tedavi y\u00f6ntemleri ve ila\u00e7 geli\u015ftirme \u00e7al\u0131\u015fmalar\u0131na odakland\u0131\u011f\u0131n\u0131 vurgulayan Ezg\u00fc, farkl\u0131 tedavileri i\u00e7eren 20’nin \u00fczerinde klinik ara\u015ft\u0131rman\u0131n merkezde y\u00fcr\u00fct\u00fcld\u00fc\u011f\u00fcn\u00fc anlatt\u0131.<\/p>\n
Ezg\u00fc, bu kapsamda d\u00fcnyada sadece nitelikli birka\u00e7 merkezde yap\u0131labilen gen tedavi uygulamalar\u0131n\u0131n da al\u0131nan uluslararas\u0131 izinler do\u011frultusunda ba\u015flat\u0131ld\u0131\u011f\u0131n\u0131 belirterek, “Fenilketon\u00fcri (PKU) hastal\u0131\u011f\u0131nda y\u00fcr\u00fctt\u00fc\u011f\u00fcm\u00fcz \u00fc\u00e7 klinik ara\u015ft\u0131rma var. Bunlardan sonuncusu hastal\u0131\u011f\u0131n kesin, kal\u0131c\u0131 tedavisini hedefleyen gen tedavisi.” bilgisini payla\u015ft\u0131.<\/p>\n
![\"\"](\"https:\/\/www.aa.com.tr\/uploads\/userFiles\/7e80dc7f-a011-4033-a881-3a6b5b580d82\/20240304_2_62823810_98374851.jpg\"\/)
<\/p>\n
“D\u00fcnyada tek merkez olarak ba\u015flad\u0131k”<\/h3>\n
PKU’nun \u00f6zel bir beslenme uygulanmas\u0131 gerektiren, aksi halde \u00e7ocuklarda zeka gerili\u011fi ve kal\u0131c\u0131 beyin hasar\u0131na yol a\u00e7an kal\u0131tsal bir hastal\u0131k oldu\u011funa dikkati \u00e7eken Ezg\u00fc, s\u00f6zlerini \u015f\u00f6yle s\u00fcrd\u00fcrd\u00fc:<\/p>\n
“B\u00fct\u00fcn genetik hastal\u0131klar gibi fenilketon\u00fcride de kal\u0131c\u0131 bir tedavi olu\u015fturabilme hedefiyle d\u00fcnyada gen tedavisi \u00e7al\u0131\u015fmalar\u0131 ba\u015flat\u0131ld\u0131. Bu konuda farkl\u0131 bir \u00fclkede \u00fcretilen ilac\u0131n laboratuvar \u00e7al\u0131\u015fmalar\u0131, hayvan denemeleri gibi a\u015famalar\u0131 ba\u015far\u0131yla tamamland\u0131. Ard\u0131ndan tedavinin ilk kez insanlar \u00fczerindeki uygulamalar\u0131 g\u00fcndeme geldi.<\/p>\n
Merkezimiz, yap\u0131lan ara\u015ft\u0131rmalarda belirlenen kriterleri fazlas\u0131yla kar\u015f\u0131lamas\u0131 nedeniyle, gen tedavisinin fenilketon\u00fcri hastalar\u0131 \u00fczerinde d\u00fcnyadaki ilk uygulamas\u0131n\u0131 yapmak \u00fczere se\u00e7ildi. Bu \u00e7al\u0131\u015fmaya, uluslararas\u0131 bir merkez h\u00fcviyetinde d\u00fcnyada tek merkez olarak ba\u015flad\u0131k, ilerleyen a\u015famada 2-3 merkez kat\u0131labilir. Sadece \u00fclkemizdeki de\u011fil, d\u00fcnyadaki bir\u00e7ok hasta i\u00e7in de \u00f6nem ta\u015f\u0131yor. Gen tedavisini \u015fu an 2 fenilketon\u00fcri hastam\u0131za ba\u015far\u0131yla uygulad\u0131k, yak\u0131n zamanda \u00fc\u00e7\u00fcnc\u00fc hastam\u0131za da yap\u0131lacak. \u0130lerleyen g\u00fcnlerde sonu\u00e7lar\u0131n\u0131 hep birlikte g\u00f6zlemleyece\u011fiz.”<\/p>\n
Prof. Dr. Ezg\u00fc, gen tedavisinin Faz 1 \u00e7al\u0131\u015fmalar\u0131n\u0131n, \u00fc\u00e7er hastaya farkl\u0131 dozlar\u0131n uyguland\u0131\u011f\u0131 \u00fc\u00e7 ayr\u0131 hasta grubunu kapsad\u0131\u011f\u0131n\u0131, sonu\u00e7lar\u0131n\u0131 uluslararas\u0131 bir doktor ekibinin de\u011ferlendirdi\u011fini s\u00f6yleyerek, buradan \u00e7\u0131kacak sonu\u00e7lara g\u00f6re bir sonraki a\u015famaya ge\u00e7ilece\u011fini ifade etti.<\/p>\n
\u0130ki hastada beyin i\u00e7ine ameliyats\u0131z gen tedavisi uyguland\u0131<\/h3>\n
\u00c7ocuklarda beyin ve farkl\u0131 organlarda ciddi hasara yol a\u00e7an, \u00f6l\u00fcmle sonu\u00e7lanabilen bir t\u00fcr enzim eksikli\u011fi bozuklu\u011fu GM1 Gangliosidozis’e ili\u015fkin de d\u00fcnyada \u00fc\u00e7\u00fcnc\u00fc, T\u00fcrkiye’de ise ilk olan bir tedavi y\u00f6ntemini klinik \u00e7al\u0131\u015fma kapsam\u0131nda ba\u015flatt\u0131klar\u0131n\u0131 bildiren Ezg\u00fc, \u015funlar\u0131 kaydetti:<\/p>\n
“Bu hastal\u0131kta da yabanc\u0131 bir sponsor taraf\u0131ndan gen tedavisi geli\u015ftirildi ve d\u00fcnyada bunu uygulayabilecek, bizim de i\u00e7inde oldu\u011fumuz \u00fc\u00e7 merkez se\u00e7ildi. Bu hastal\u0131ktaki gen tedavisi uygulamas\u0131n\u0131 damardan de\u011fil, do\u011frudan beyin i\u00e7ine yap\u0131yoruz. Ameliyats\u0131z olarak, bir i\u011fneyle tomografi alt\u0131nda direkt beyne ila\u00e7 uygulamas\u0131n\u0131 i\u00e7eriyor.”<\/p>\n
D\u00fcnyada \u00e7ok yeni olan bu y\u00f6ntemi s\u0131n\u0131rl\u0131 say\u0131da ekibin uygulayabildi\u011fini, Gazi \u00dcniversitesi T\u0131p Fak\u00fcltesi Hastanesi b\u00fcnyesindeki ekibin de ABD’de bu konudaki e\u011fitimleri ald\u0131\u011f\u0131n\u0131 aktaran Ezg\u00fc, “Hocalar\u0131m\u0131z, gen tedavisini iki hastam\u0131za tomografi alt\u0131nda, ameliyats\u0131z, k\u0131sa bir anesteziyle do\u011frudan beyin i\u00e7ine ba\u015far\u0131yla uygulad\u0131. \u00dclkemizde ilk kez yap\u0131ld\u0131 bu uygulama. Hastalar\u0131m\u0131z da tedavinin uyguland\u0131\u011f\u0131 d\u00fcnyadaki 5. ve 6. hastalar oldu.” dedi.<\/p>\n
![\"\"](\"https:\/\/www.aa.com.tr\/uploads\/userFiles\/7e80dc7f-a011-4033-a881-3a6b5b580d82\/20240304_2_62823810_98374853.jpg\"\/)
<\/p>\n
“Yerli gen tedavisi ilac\u0131n\u0131 \u00fcretebilmek i\u00e7in \u00e7abal\u0131yoruz”<\/h3>\n
Prof. Dr. Fatih Ezg\u00fc, iki klinik ara\u015ft\u0131rman\u0131n farkl\u0131 genetik hastal\u0131klar\u0131n tedavisine de \u0131\u015f\u0131k tutabilece\u011finin alt\u0131n\u0131 \u00e7izerek, “\u00d6n\u00fcm\u00fczdeki d\u00f6nem, yurt d\u0131\u015f\u0131nda geli\u015ftirilen ila\u00e7lar\u0131n yan\u0131 s\u0131ra kendi laboratuvar\u0131m\u0131zda geli\u015ftirdi\u011fimiz bir ilac\u0131n ileri s\u00fcre\u00e7lerini ba\u015flatmay\u0131 planl\u0131yoruz.” diye konu\u015ftu.<\/p>\n
Ezg\u00fc, \u00fcre d\u00f6ng\u00fcs\u00fc bozukluklar\u0131 ve lizozomal hastal\u0131klara ili\u015fkin de iki ayr\u0131 gen tedavisi \u00e7al\u0131\u015fmalar\u0131 ba\u015flatacaklar\u0131n\u0131 s\u00f6yleyerek, “Bunlar\u0131n yan\u0131nda kendi laboratuvar\u0131m\u0131zda farkl\u0131 bir hastal\u0131\u011fa ili\u015fkin yerli gen tedavisi ilac\u0131n\u0131 \u00fcretebilmek i\u00e7in \u00e7abal\u0131yoruz. E\u011fer ba\u015far\u0131 sa\u011flanabilirse ilerleyen y\u0131llarda \u00fcretti\u011fimiz ilac\u0131n klinik ara\u015ft\u0131rmas\u0131n\u0131 da merkezimizde yapaca\u011f\u0131z.” a\u00e7\u0131klamas\u0131nda bulundu.<\/p>\n
“Hedefimiz bu tedavilerin t\u00fcm hastalar\u0131n kullanabilece\u011fi \u015fekilde geli\u015ftirilmesi”<\/h3>\n
Faz 1 klinik ara\u015ft\u0131rmalar\u0131n \u00e7ok k\u0131s\u0131tl\u0131 say\u0131da hastayla y\u00fcr\u00fct\u00fcld\u00fc\u011f\u00fcn\u00fc, ilerleyen a\u015famalarda daha fazla insan\u0131n \u00e7al\u0131\u015fmaya dahil edildi\u011fini anlatan Ezg\u00fc, gen tedavisi \u00e7al\u0131\u015fmas\u0131na da hastalar\u0131n, ya\u015f durumunun i\u00e7inde oldu\u011fu yakla\u015f\u0131k 20 farkl\u0131 kriterin de\u011ferlendirilmesi sonucu kabul edildi\u011fini s\u00f6yledi.<\/p>\n
Ezg\u00fc, “Hedefimiz bu ara\u015ft\u0131rmalar\u0131n ba\u015far\u0131yla sonu\u00e7lanmas\u0131 ve tedavilerin b\u00fct\u00fcn hastalar\u0131n kullanabilece\u011fi bir \u015fekilde geli\u015ftirilmesi. \u015eunu \u00f6zellikle belirtmek isterim; t\u00fcm genetik hastalar\u0131m\u0131z gelece\u011fe umutla bakabilir. Elbette bir miktar sabretmeleri gerekiyor.” de\u011ferlendirmesini yapt\u0131.<\/p>\n
Yeni geli\u015ftirilen bir\u00e7ok ilac\u0131n y\u0131llar i\u00e7erisinde geli\u015fme kat etti\u011fine dikkati \u00e7eken Ezg\u00fc, Sa\u011fl\u0131k Bakanl\u0131\u011f\u0131, T\u00fcrkiye \u0130la\u00e7 ve T\u0131bbi Cihaz Kurumu ve T\u00dcSEB’in bu \u00e7al\u0131\u015fmalara ciddi destek sa\u011flad\u0131\u011f\u0131n\u0131 vurgulad\u0131.<\/p>\n
Klinik \u00e7al\u0131\u015fmalar\u0131n \u00e7ocuk beyin cerrahisi, anestezi, kulak burun bo\u011faz, radyoloji gibi bir\u00e7ok b\u00f6l\u00fcmle i\u015fbirli\u011finde y\u00fcr\u00fct\u00fcld\u00fc\u011f\u00fcne i\u015faret eden Prof. Dr. Fatih Ezg\u00fc, merkezdeki klinik ara\u015ft\u0131rmalar\u0131n hastalar\u0131n ileride daha iyi sa\u011fl\u0131k hizmetine kavu\u015fabilmeleri i\u00e7in ellerinden gelen her \u015feyi yapabilecek, profesyonel bir ekiple y\u00fcr\u00fct\u00fcld\u00fc\u011f\u00fcn\u00fc s\u00f6zlerine ekledi.<\/p>\n