囊性纤维化跨膜传导调节剂(CFTR)调节剂治疗的资格:t rkiye囊性纤维化登记队列。

Meltem Akgül Erdal, Halime Nayır Büyükşahin, Velat Şen, Ayşe Ayzıt Kılınç, Haluk Çokuğraş, Güzide Doğan, Aslı İmran Yılmaz, Gökçen Ünal, Mahir Serbes, Derya Ufuk Altıntaş, Elif Arık, Özlem Keskin, Mehmet Mustafa Özaslan, Oğuz Karcıoğlu, Mehmet Köse, Abdurrahman Erdem Başaran, Eylül Pınar Çakır, Yakup Canıtez, Ali Özdemir, Koray Harmancı, Salih Uytun, Sanem Eryılmaz Polat, Melih Hangül, Hasan Yüksel, Gizem Özcan, Pervin Korkmaz, Mehmet Kılıç, Zeynep Gökçe Gayretli Aydın, Gönül Çaltepe, Demet Can, Sibel Doğru, Gökçen Kartal Öztürk, Ayşe Süleyman, Erdem Topal, Beste Özsezen, Mina Hızal, Ezgi Demirdöğen, Hamza Ogun, Şermin Börekçi, Hakan Yazan, Hadice Selimoğlu Şen, Ayşegül Doğan Demir, Erkan Çakır, Tuğba Şişmanlar Eyüboğlu, Nagehan Emiralioğlu, Sevgi Pekcan, Uğur Özçelik, Deniz Doğru
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引用次数: 0

摘要

背景:囊性纤维化跨膜传导调节剂(CFTR)变异是确定CFTR调节剂药物(CFTRms)是否合格的必要条件。与欧洲和美国相比, rkiye中囊性纤维化(CF)患者的治疗资格概况尚不清楚。在这项研究中,我们旨在确定 rkiye CF患者是否适合CFTRms。方法:使用 rkiye囊性纤维化登记处(CFrT)的数据来确定患者在2021年的年龄及其携带的遗传变异。使用Vertex®算法确定年龄和cftr变异的适当调节疗法。结果:1930例登记患者中,CTFR基因分析1841例(95.4%)。10.7%(198例)的患者检测到一个等位基因突变,79%(1455例)的患者检测到两个等位基因突变。共有855名患者(51.7%的患者至少检测到1种突变)符合用药条件。基因型患者中最适合的药物为elexaftor /tezacaftor/ivacaftor(486例,占26.4%),其次是ivacaftor(327例,占17.7%)和lumacaftor/ivacaftor(42例,占2%)。结论:只有一半注册的cffrt患者符合CFTRms的条件,这与美国和欧洲的CFTR变异概况有显著差异。然而,一些基因未被分析的患者获得治疗受到阻碍。在罕见突变相对更常见的CF人群中,进一步的研究将有助于CFTR调节剂治疗这类罕见突变领域。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye.

Background: Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) variants are essential for determining eligibility for CFTR modulator drugs (CFTRms). In contrast to Europe and the USA, the treatment eligibility profile of cystic fibrosis (CF) patients in Türkiye is not known. In this study we aimed to determine the eligibility of CF patients in Türkiye for the CFTRms.

Methods: The Cystic Fibrosis Registry of Türkiye (CFrT) data was used to determine the age of patients in the year 2021 and the genetic variants they were carrying. Age- and CFTR-variant appropriate modulator therapies were determined using the Vertex® algorithm.

Results: Among a total of 1930 registered patients, CTFR gene analysis was performed on a total of 1841 (95.4%) patients. Mutations were detected in one allele in 10.7% (198 patients), and in both alleles in 79% (1455 patients) of patients. A total of 855 patients (51.7% for whom at least 1 mutation was detected) were eligible for the drugs. The most appropriate drug among genotyped patients was found to be elexacaftor/tezacaftor/ivacaftor for 486 patients (26.4%), followed by ivacaftor for 327 patients (17.7%) and lumacaftor/ivacaftor for 42 patients (2%).

Conclusions: Only half of patients registered in CFrT were eligible for CFTRms, which is a significant difference from the CFTR variant profile seen in USA and Europe. However, access to treatment is hampered for some patients whose genes are not analysed. Further studies in CF populations, where rare mutations are relatively more common, will contribute to the field of CFTR modulator treatments for such rare mutations.

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