Regional features of the cystic fibrosis pediatric population structure and pathogenetic therapy coverage with CFTR-modulators in the Southern Federal District of the Russian Federation

Abstract

Introduction . Cystic fibrosis (CF) remains one of the most significant inherited multisystem diseases of childhood, characterized by progressive damage to the bronchopulmonary system, exocrine pancreatic insufficiency, and marked clinical phenotype variability governed by both underlying genotype and the timing of pathogenetic therapy initiation. Recently, the advent of CFTR-modulators dramatically changed the paradigm of CF management, as it has become possible for the first time to address the molecular defect underlying the disease, rather than just its clinical manifestations. Aim . To analyze the regional structure of the CF patient population in the Southern Federal District (SFD) and assess the coverage of the pediatric cohort with targeted therapy. Materials and methods . A descriptive analysis was conducted using the regional data on CF patients in the SFD. The following parameters were assessed: the number of patients, patient distribution across the SFD entities, the number of newly diagnosed cases in 2025, the volume of patient referrals to the therapeutic facilities, availability of CFTR-modulators, and prescription profiles. Results . The SFD CF population was estimated at 521 patients, with 366 children and 155 adults. The Krasnodar Territory, Rostov Region, Republic of Crimea, and Volgograd Region had the largest cohorts of CF patients. In 2025, 20 new cases of the disease were diagnosed in the district, as compared with the expected number of 25–30, calculated from population-based data on the average incidence of CF in the Russian Federation. 246 children received targeted therapy, while 120 patients remained without pathogen-oriented treatment. Among targeted drugs dominated the triple combination composed of elexacaftor, tezacaftor, and ivacaftor introduced to the Russian market under the trade name Trilexa® (Tuteur S.A.C.I.F.I.A., Argentina) (78%) and Trikafta® (Vertex Pharmaceuticals) (15.9%). Conclusions. The available data show a signficant progress in the availability of pathogen-oriented therapy in the SFD, but there remain genetic, age-related, and institutional barriers limiting full patient coverage with highly effective CFTR-modulators. The regional analysis highlights the need for further improvements in the neonatal screening system, expansion of genotypeoriented therapy, and continuity of medical care for adolescents and young adults.