Browsing by Author "Doğru D."

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    Patients eligible for modulator drugs: Data from cystic fibrosis registry of Turkey
    (John Wiley and Sons Inc., 2020) Çobanoğlu N.; Özçelik U.; Çakır E.; Şişmanlar Eyüboğlu T.; Pekcan S.; Cinel G.; Yalçın E.; Kiper N.; Emiralioğlu N.; Şen V.; Şen H.S.; Ercan Ö.; Çokuğraş H.; Kılınç A.A.; Al Shadfan L.M.; Yazan H.; Altıntaş D.U.; Karagöz D.; Demir E.; Kartal Öztürk G.; Bingöl A.; Başaran A.E.; Sapan N.; Çekiç Ş.; Çelebioğlu E.; Aslan A.T.; Gürsoy T.R.; Tuğcu G.; Özdemir A.; Harmancı K.; Yıldırım G.K.; Köse M.; Hangül M.; Tamay Z.; Süleyman A.; Yüksel H.; Yılmaz Ö.; Özcan G.; Topal E.; Can D.; Korkmaz Ekren P.; Çaltepe G.; Kılıç M.; Özdoğan Ş.; Doğru D.
    Background: A better understanding of cystic fibrosis transmembrane conductance regulator biology has led to the development of modulator drugs such as ivacaftor, lumacaftor-ivacaftor, tezacaftor-ivacaftor, and elexacaftor-tezacaftor-ivacaftor. This cross-sectional study evaluated cystic fibrosis (CF) patients eligible for modulator drugs. Methods: Data for age and genetic mutations from the Cystic Fibrosis Registry of Turkey collected in 2018 were used to find out the number of patients who are eligible for modulator therapy. Results: Of registered 1488 CF patients, genetic analysis was done for 1351. The numbers and percentages of patients and names of the drugs, that the patients are eligible for, are as follows: 122 (9.03%) for ivacaftor, 156 (11.54%) for lumacaftor-ivacaftor, 163 (11.23%) for tezacaftor-ivacaftor, and 57 (4.21%) for elexacaftor-tezacaftor-ivacaftor. Among 1351 genotyped patients total of 313 (23.16%) patients are eligible for currently licensed modulator therapies (55 patients were shared by ivacaftor and tezacaftor-ivacaftor, 108 patients were shared by lumacaftor-ivacaftor and tezacaftor-ivacaftor, and 22 patients were shared by tezacaftor-ivacaftor and elexacaftor-tezacaftor-ivacaftor groups). Conclusions: The present study shows that approximately one-fourth of the registered CF patients in Turkey are eligible for modulator drugs. As, frequent mutations that CF patients have in Turkey are different from North American and European CF patients, developing modulator drugs effective for those mutations is necessary. Furthermore, as modulator drugs are very expensive currently, financial support of the government in developing countries like Turkey is noteworthy. © 2020 Wiley Periodicals LLC
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    Patients with cystic fibrosis who could not receive the CFTR modulator treatment: What did they lose in 1 year?
    (John Wiley and Sons Inc, 2023) Uytun S.; Cinel G.; Eryılmaz Polat S.; Özkan Tabakçı S.; Kiper N.; Yalçın E.; Ademhan Tural D.; Özsezen B.; Şen V.; Selimoğlu Şen H.; Ufuk Altıntaş D.; Çokuğraş H.; Kılınç A.A.; Başkan A.K.; Yazan H.; Çollak A.; Uzuner S.; Ünal G.; Yılmaz A.İ.; Çağlar H.T.; Damadoğlu E.; Irmak İ.; Demir E.; Kartal Öztürk G.; Bingöl A.; Başaran E.; Sapan N.; Canıtez Y.; Tana Aslan A.; Asfuroğlu P.; Harmancı K.; Köse M.; Hangül M.; Özdemir A.; Çobanoğlu N.; Özcan G.; Keskin Ö.; Yüksel H.; Özdoğan Ş.; Topal E.; Çaltepe G.; Can D.; Korkmaz Ekren P.; Kılıç M.; Emiralioğlu N.; Şişmanlar Eyüboğlu T.; Pekcan S.; Çakır E.; Özçelik U.; Doğru D.
    Background: Cystic fibrosis (CF) is an autosomal recessive disorder caused by CF transmembrane conductance regulator (CFTR) genetic variants. CFTR modulators improve pulmonary function and reduce respiratory infections in CF. This study investigated the clinical and laboratory follow-up parameters over 1 year in patients with CF who could not receive this treatment. Methods: This retrospective cohort study included 2018 and 2019 CF patient data from the CF registry of Turkey. Demographic and clinical characteristics of 294 patients were assessed, who had modulator treatment indications in 2018 but could not reach the treatment. Results: In 2019, patients younger than 18 years had significantly lower BMI z-scores than in 2018. During the 1-year follow-up, forced expiratory volumes (FEV1) and FEV1 z-scores a trend toward a decrease. In 2019, chronic Staphylococcus aureus colonization, inhaled antipseudomonal antibiotic use for more than 3 months, oral nutritional supplement requirements, and oxygen support need increased. Conclusions: Patients who had indications for modulator treatments but were unable to obtain them worsened even after a year of follow-up. This study emphasized the importance of using modulator treatments for patients with CF in our country, as well as in many countries worldwide. © 2023 Wiley Periodicals LLC.
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    Clinical characteristics of patients requiring lung transplantation referral in national cystic fibrosis registry data
    (Turkish National Pediatric Society, 2023) Onay Z.R.; Eyüboğlu T.Ş.; Aslan A.T.; Gürsoy T.R.; Yalçın E.; Kiper N.; Emiralioğlu N.; Şen H.S.; Şen V.; Ünal G.; Yılmaz A.İ.; Kılınç A.A.; Çokuğraş H.; Başkan A.K.; Yazan H.; Çollak A.; Uzuner S.; Şasihüseyinoğlu A.Ş.; Özcan D.; Altıntaş D.U.; Öztürk G.K.; Demir E.; Bingöl A.; Başaran E.; Çekiç Ş.; Sapan N.; Irmak İ.; Damadoğlu E.; Tuğcu G.D.; Polat S.E.; Özdemir A.; Harmancı K.; Kılıç G.; Hangül M.; Köse M.; Tamay Z.; Yüksel H.; Özcan G.; Topal E.; Can D.; Korkmaz P.; Çaltepe G.; Kılıç M.; Özdoğan Ş.; Çakır E.; Çobanoğlu N.; Pekcan S.; Cinel G.; Özçelik U.; Doğru D.
    Background. We aimed to determine the number of cystic fibrosis (CF) patients recorded in the Cystic Fibrosis Registry of Türkiye (CFRT) who were in need of lung transplantation (LT) referral and examine clinical differences between patients who were LT candidates due to rapid forced expiratory volume in one second (FEV₁) decline and LT candidates without rapid FEV₁ decline in the last year to identify a preventable cause in patients with such rapid FEV₁ decline. Methods. All CF patients recorded in the CFRT in 2018 were evaluated in terms of LT. Patients were divided into those with FEV₁ below 50% and in need of LT due to a decrease of 20% or more in the previous year (Group 1) and those who did not have FEV₁ decline of more than 20% in the previous year but had other indications for LT (Group 2). Demographic and clinical features were compared between the two groups. Results. Of 1488 patients registered in CFRT, 58 had a need for LT. Twenty patients were included in Group 1 and others in Group 2. Our findings did not reveal any significant variations in treatment, chronic infection status, or complications between the two groups. The average weight z-score was significantly higher in Group 1. Positive correlations were detected between weight z-score and FEV₁ in 2017 in Group 1 and between FEV₁ values in 2017 and 2018 in Group 2. Conclusions. There appears to be a relationship between the nutritional status and weight z-scores of CF patients and pulmonary function, which may indirectly affect the need for lung transplantation referral. © 2023, Turkish National Pediatric Society. All rights reserved.
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    Factors associated with pulmonary function decline of patients in the cystic fibrosis registry of Turkey: A retrospective cohort study
    (John Wiley and Sons Inc, 2024) Emiralioğlu N.; Çakır B.; Sertçelik A.; Yalçın E.; Kiper N.; Şen V.; Altıntaş D.U.; Serbes M.; Çokuğraş H.; Kılınç A.A.; Başkan A.K.; Hepkaya E.; Yazan H.; Türel Ö.; Kafi H.M.; Yılmaz A.İ.; Ünal G.; Çağlar T.; Damadoğlu E.; Irmak İ.; Demir E.; Öztürk G.; Bingöl A.; Başaran E.; Sapan N.; Aslan A.T.; Asfuroğlu P.; Harmancı K.; Köse M.; Hangül M.; Özdemir A.; Tuğcu G.; Polat S.E.; Özcan G.; Gayretli Z.G.; Keskin Ö.; Bilgiç S.; Yüksel H.; Özdoğan Ş.; Topal E.; Çaltepe G.; Can D.; Ekren P.K.; Kılıç M.; Süleyman A.; Eyüboğlu T.Ş.; Cinel G.; Pekcan S.; Çobanoğlu N.; Çakır E.; Özçelik U.; Doğru D.
    Background: The decline in pulmonary function is a predictor of disease progression in patients with cystic fibrosis (CF). This study aimed to determine the decline rate of percent predicted forced expiratory volume in 1 s (ppFEV1) based on the data of the CF Registry of Turkey. The secondary aim was to investigate the risk factors related to the decline in ppFEV1. Methods: A retrospective cohort study of CF patients over 6 years old, with pulmonary function data over at least 2 years of follow-up was extracted from the national CF registry for years 2017–2019. Patients were classified according to disease severity and age groups. Multivariate analysis was used to predict the decline in ppFEV1 and to investigate the associated risk factors. Results: A total of 1722 pulmonary function test results were available from 574 patients over the study period. Mean diagnostic age was older and weight for age, height for age, and body mass index z scores were significantly lower in the group of ppFEV1 < 40, while chronic Pseudomonas aeruginosa (p <.001) and mucoid P. aeruginosa colonization (p <.001) were significantly higher in this group (p <.001). Overall mean annual ppFEV1 decline was −0.97% (95% confidence interval [CI] = −0.02 to −1.92%). The mean change of ppFEV1 was significantly higher in the group with ppFEV1 ≥ 70 compared with the other (ppFEV1 < 40 and ppFEV1: 40–69) two groups (p =.004). Chronic P. aeruginosa colonization (odds ratio [OR] = 1.79 95% CI = 1.26–2.54; p =.01) and initial ppFEV1 ≥ 70 (OR = 2.98 95% CI = 1.06-8.36), p =.038) were associated with significant ppFEV1 decline in the whole cohort. Conclusions: This data analysis recommends close follow-up of patients with normal initial ppFEV1 levels at baseline; advocates for early interventions for P. aeruginosa; and underlines the importance of nutritional interventions to slow down lung disease progression. © 2024 Wiley Periodicals LLC.
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    Comparison of clinical features of cystic fibrosis patients eligible but not on CFTR modulators to ineligible for CFTR modulators
    (John Wiley and Sons Inc, 2024) Nayır Büyükşahin H.; Emiralioğlu N.; Yalçın E.; Şen V.; Selimoğlu Şen H.; Arslan H.; Başkan A.K.; Çakır F.B.; Koray C.F.; Yılmaz A.İ.; Ercan F.; Altıntaş D.U.; Serbes M.; Keskin Ö.; Arık E.; Gülen F.; Barlık M.; Karcıoğlu O.; Damadoğlu E.; Köse M.; Ersoy A.; Bingöl A.; Başaran E.; Çakır E.P.; Aslan A.T.; Canıtez Y.; Korkmaz M.; Özdemir A.; Harmancı K.; Soydaş Ş.S.; Hangül M.; Yüksel H.; Özcan G.; Korkmaz P.; Kılıç M.; Gayretli Aydın Z.G.; Çaltepe G.; Can D.; Doğru S.; Kartal Öztürk G.; Süleyman A.; Topal E.; Özsezen B.; Hızal M.; Demirdöğen E.; Ogun H.; Börekçi Ş.; Yazan H.; Çakır E.; Şişmanlar Eyüboğlu T.; Çobanoğlu N.; Cinel G.; Pekcan S.; Özçelik U.; Doğru D.
    Introduction: Cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs target the underlying defect and improve CFTR function. They are a part of standard care in many countries, but not all patients are eligible for these drugs due to age and genotype. Here, we aimed to determine the characteristics of non-eligible patients for CFTR modulators in the CF registry of Turkey (CFRT) to highlight their clinical needs. Methods: This retrospective cohort study included CF patient data from the CFRT in 2021. The decision of eligibility for the CFTR modulator was determined according to the ‘Vertex treatment-Finder' on the Vertex® website. Demographic and clinical characteristics of patients were compared between eligible (group 1) and ineligible (group 2) groups for CFTR modulators. Results: Among the study population (N = 1527), 873 (57.2%) were in group 1 and 654 (42.8%) were in group 2. There was no statistical difference between groups regarding sex, meconium ileus history, diagnoses via newborn screening, FEV1 z-score, CF-associated complications, organ transplant history, and death. Patients in group 2 had a higher incidence of pancreatic insufficiency (87.7% vs. 83.2%, p =.010), lower median height z-scores (−0.87 vs. −0.55, p <.001), lower median body mass index z-scores (−0.65 vs. −0.50, p <.001), longer days receiving antibiotics due to pulmonary exacerbation (0 [interquartile range, IQR: 0–2] vs. 0 [IQR: 0–7], p = 0.001), and more non-invasive ventilation support (2.6% vs. 0.9%, p = 0.008) than patients in group 1. Conclusion: The ineligible group had worse clinical outcomes than the eligible group. This highlights their need for life-changing drugs to improve clinical outcomes. © 2024 Wiley Periodicals LLC.
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    Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye
    (Turkish National Pediatric Society, 2025) Erdal M.A.; Büyükşahin H.N.; Şen V.; Kılınç A.A.; Çokuğraş H.; Doğan G.; Yılmaz A.İ.; Ünal G.; Serbes M.; Altıntaş D.U.; Arık E.; Keskin Ö.; Özaslan M.M.; Karcıoğlu O.; Köse M.; Başaran A.E.; Çakır E.P.; Canıtez Y.; Özdemir A.; Harmancı K.; Uytun S.; Polat S.E.; Hangül M.; Yüksel H.; Özcan G.; Korkmaz P.; Kılıç M.; Aydın Z.G.G.; Çaltepe G.; Can D.; Doğru S.; Öztürk G.K.; Süleyman A.; Topal E.; Özsezen B.; Hızal M.; Demirdöğen E.; Ogun H.; Börekçi Ş.; Yazan H.; Şen H.S.; Demir A.D.; Çakır E.; Eyüboğlu T.Ş.; Emiralioğlu N.; Pekcan S.; Özçelik U.; Doğru D.
    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. © 2025 The Author(s).
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    A retrospective cohort study of children diagnosed with Cystic Fibrosis after implementation of a newborn screening program in Turkey
    (W.B. Saunders Ltd, 2025) Kekeç H.; Eyüboğlu T.Ş.; Aslan A.T.; Hocoğlu Z.İ.; Yalçın E.; Sunman B.; Yavuz B.Ç.; Şen V.; Savaş S.; Kılınç A.A.; Başkan A.K.; Yazan H.; Ünal G.; Canıtez Y.; Sapan N.; Gülen F.; Öztürk G.K.; Keskin Ö.; Arık E.; Köse M.; Ersoy A.; Altıntaş D.U.; Serbes M.; Başaran A.E.; Bingöl A.; Özdemir A.; Barlık M.; Tuğcu G.D.; Bilgiç I.; Anıl H.; Özsezen B.; Tekin M.N.; Yüksel H.; Çaltepe G.; Hangül M.; Gayretli Aydın Z.G.; Kılıç M.; Hızal M.; İkizoğlu N.B.; Özcan G.; Emiralioğlu N.; Cinel G.; Pekcan S.; Çakır E.; Özçelik U.; Doğru D.
    Introduction: Newborn screening (NBS) for cystic fibrosis (CF) facilitates early diagnosis and has been shown to significantly improve long-term clinical outcomes. In this study, we aimed to evaluate the 7-year results of the immunoreactive trypsinogen (IRT)/IRT NBS of Turkey. Methods: The study included all CF patients who were born after NBS implementation, and who were enrolled in the CF Registry of Turkey (CFRT) in 2022. Patients were divided into three groups according to NBS results: Group 1 with positive NBS, Group 2 with negative NBS, and Group 3 with no screening or unknown screening results. All clinical and demographic data were compared between the three groups. Results: A total of 853 patients were included in the study, 668 (78.3%) patients were in Group 1, 90 (10.5%) in Group 2, and 95 (11.2%) in Group 3. The age at diagnosis was 0.17 (0.08-0.33) years in Group 1, 0.50 (0.25-1.0) in Group 2, and 0.33 (0.17-0.75) in Group 3 (p<0.001). The first and second sweat test results and frequency of pancreatic insufficiency were lowest in Group 2 (p<0.05). Median FEV1 (%) was 88 (77-103) in Group 1, 90 (71.5-104) in Group 2, 89.5 (81.75-97.5) in Group 3 (p>0.05). 49% of the patients had a severe genotype and it was detected most frequently in Group 1 (p=0.021). Conclusions: Patients with pancreatic sufficiency may be missed by IRT/IRT NBS and lower and negative sweat test results may contribute to delays in CF diagnosis. Approximately 22% of patients are not diagnosed through this screening method. © 2025 Elsevier Ltd