Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye

被引：1

作者：

Erdal, Meltem Akgul ^{[1
]}

Buyuksahin, Halime Nayir ^{[2
]}

Sen, Velat ^{[3
]}

Kilinc, Ayse Ayzit ^{[4
]}

Cokugras, Haluk ^{[4
]}

Dogan, Guzide ^{[5
]}

Yilmaz, Asli Imran ^{[6
]}

Unal, Gokcen ^{[6
]}

Serbes, Mahir ^{[7
]}

Altintas, Derya Ufuk ^{[7
]}

Arik, Elif ^{[8
]}

Keskin, Ozlem ^{[8
]}

Ozaslan, Mehmet Mustafa ^{[9
]}

Karcioglu, Oguz ^{[10
]}

Kose, Mehmet ^{[11
]}

Basaran, Abdurrahman Erdem ^{[12
]}

Cakir, Eylul Pinar ^{[13
]}

Canitez, Yakup ^{[14
]}

Ozdemir, Ali ^{[15
]}

Harmanci, Koray ^{[16
]}

Uytun, Salih ^{[17
]}

Polat, Sanem Eryilmaz ^{[17
]}

Hangul, Melih ^{[18
]}

Yuksel, Hasan ^{[19
]}

Ozcan, Gizem ^{[20
]}

Korkmaz, Pervin ^{[21
]}

Kilic, Mehmet ^{[22
]}

Aydin, Zeynep Gokce Gayretli ^{[23
]}

Caltepe, Gonul ^{[24
]}

Can, Demet ^{[25
]}

Dogru, Sibel ^{[26
]}

Ozturk, Gokcen Kartal ^{[27
]}

Suleyman, Ayse ^{[28
]}

Topal, Erdem ^{[29
]}

Ozsezen, Beste ^{[30
]}

Hizal, Mina ^{[31
]}

Demirdogen, Ezgi ^{[32
]}

Ogun, Hamza ^{[33
]}

Borekci, Sermin ^{[34
]}

Yazan, Hakan ^{[35
]}

Sen, Hadice Selimoglu ^{[36
]}

Demir, Ayseguel Dogan ^{[37
]}

Cakir, Erkan ^{[38
]}

Eyuboglu, Tugba Sismanlar ^{[39
]}

Emiralioglu, Nagehan ^{[1
]}

Pekcan, Sevgi ^{[6
]}

Ozcelik, Ugur ^{[1
]}

Dogru, Deniz ^{[1
]}

机构：

[1] Hacettepe Univ, Fac Med, Dept Pediat Pulmonol, Ankara, Turkiye

[2] Mardin Publ Hosp, Dept Pediat Endocrinol, Mardin, Turkiye

[3] Dicle Univ, Fac Med, Dept Pediat Pulmonol, Diyarbakir, Turkiye

[4] Istanbul Univ, Cerrahpasa Fac Med, Fac Med, Istanbul, Turkiye

[5] Trakya Univ, Fac Med, Dept Perinatol, Edirne, Turkiye

[6] Necmettin Erbakan Univ, Meram Fac Med, Dept Pediat Pulmonol, Konya, Turkiye

[7] Cukurova Univ, Fac Med, Dept Pediat Allergy & Immunol, Adana, Turkiye

[8] Gaziantep Univ, Fac Med, Dept Pediat Allergy & Immunol, Gaziantep, Turkiye

[9] Ege Univ, Fac Med, Dept Pediat Pulmonol, Izmir, Turkiye

[10] Hacettepe Univ, Fac Med, Dept Chest Dis, Ankara, Turkiye

[11] Erciyes Univ, Fac Med, Dept Pediat Pulmonol, Kayseri, Turkiye

[12] Akdeniz Univ, Dept Pediat Pulmonol, Fac Med, Antalya, Turkiye

[13] Bursa City Hosp, Dept Pediat, Bursa, Turkiye

[14] Bursa Uludag Univ, Dept Pediat Neurol, Fac Med, Bursa, Turkiye

[15] Mersin City Hosp, Dept Pediat, Mersin, Turkiye

[16] Eskisehir Osmangazi Univ, Dept Pediat Allergy & Immunol, Fac Med, Eskisehir, Turkiye

[17] Ankara City Hosp, Dept Pediat Pulmonol, Ankara, Turkiye

[18] Gaziantep Cengiz Gokcek Matern & Childrens Hosp, Dept Pediat Neurol, TR-27010 Sehitkamil, Gaziantep, Turkiye

[19] Celal Bayar Univ, Fac Med, Dept Pediat Pulmonol, Manisa, Turkiye

[20] Ankara Univ, Dept Pediat Pulmonol, Fac Med, Ankara, Turkiye

[21] Ege Univ, Dept Chest Dis, Fac Med, Izmir, Turkiye

[22] Fzrat Univ, Fac Med, Dept Pediat Allergy & Immunol, Elazig, Turkiye

[23] Karadeniz Tech Univ, Fac Med, Dept Orthoped & Traumatol, TR-61080 Trabzon, Turkiye

[24] Ondokuz Mayis Univ, Fac Med, Dept Pediat Gastroenterol Hepatol & Nutr, Samsun, Turkiye

[25] Balikesir Univ, Fac Med, Dept Pulmonol, Balikesir, Turkiye

[26] Gaziantep Univ, Fac Med, Dept Chest Dis, Gaziantep, Turkiye

[27] Dr Behcet Uz Childrens Hosp, Dept Pediat Neurol, Izmir, Turkiye

[28] Istanbul Univ, Istanbul Fac Med, Fac Med, Istanbul, Turkiye

[29] Inonu Univ, Fac Med, Dept Pediat Allergy & Immunol, Malatya, Turkiye

[30] Sanliurfa Training & Res Hosp, Dept Pediat Rheumatol, Sanliurfa, Turkiye

[31] Ankara Dr Sami Ulus Childrens Hosp, Pediat Neurol, Ankara, Turkiye

[32] Bursa Uludag Univ, Fac Med, Dept Chest Dis, Bursa, Turkiye

[33] Bezmialem Vakif Univ, Fac Med, Dept Chest Dis, Istanbul, Turkiye

[34] Istanbul Univ, Cerrahpasa Fac Med, Istanbul, Turkiye

[35] Umraniye Training & Res Hosp, Dept Pediat Endocrinol, Istanbul, Turkiye

[36] Dicle Univ, Fac Med, Dept Pulm Dis, Diyarbakir, Turkiye

[37] Bezmialem Vakif Univ, Fac Med, Dept Med Biol, Istanbul, Turkiye

[38] Dicle Univ, Fac Med, Dept Pediat Pulmonol, Diyarbakir, Turkiye

[39] Gazi Univ, Fac Med, Dept Pediat Pulmonol, Ankara, Turkiye

来源：

TURKISH JOURNAL OF PEDIATRICS | 2025年 / 67卷 / 01期

关键词：

cystic fibrosis; cystic fibrosis transmembrane conductance regulator; CFrT registry; modulator; treatment; MUTATIONS; GENE;

D O I：

10.24953/turkjpediatr.2025.4680

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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 T & uuml;rkiye is not known. In this study we aimed to determine the eligibility of CF patients in T & uuml;rkiye for the CFTRms. Methods. The Cystic Fibrosis Registry of T & uuml;rkiye (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 (R) 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.

引用

页码：22 / 30

页数：9

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