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

Basit Öğe Kaydı
dc.contributor.authorErdal, Meltem Akgul
dc.contributor.authorBuyuksahin, Halime Nayir
dc.contributor.authorSen, Velat
dc.contributor.authorKilinc, Ayse Ayzit
dc.contributor.authorCokugras, Haluk
dc.contributor.authorDogan, Guzide
dc.contributor.authorYilmaz, Asli Imran
dc.date.accessioned2026-04-04T13:31:22Z
dc.date.available2026-04-04T13:31:22Z
dc.date.issued2025
dc.departmentİnönü Üniversitesi
dc.description.abstractBackground. 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.
dc.identifier.doi10.24953/turkjpediatr.2025.4680
dc.identifier.endpage30
dc.identifier.issn0041-4301
dc.identifier.issue1
dc.identifier.orcid0000-0003-0611-0852
dc.identifier.orcid0000-0002-7319-8535
dc.identifier.scopus2-s2.0-86000497928
dc.identifier.scopusqualityQ3
dc.identifier.startpage22
dc.identifier.trdizinid1303627
dc.identifier.urihttps://doi.org/10.24953/turkjpediatr.2025.4680
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1303627
dc.identifier.urihttps://hdl.handle.net/11616/108771
dc.identifier.volume67
dc.identifier.wosWOS:001439285200003
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.language.isoen
dc.publisherTurkish J Pediatrics
dc.relation.ispartofTurkish Journal of Pediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250329
dc.subjectcystic fibrosis
dc.subjectcystic fibrosis transmembrane conductance regulator
dc.subjectCFrT registry
dc.subjectmodulator
dc.subjecttreatment
dc.titleEligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye
dc.typeArticle

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu
TR-Dizin İndeksli Yayınlar Koleksiyonu