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
Jul 2026· Meditsinskiy sovet = Medical Council· pp. 179-186· 0 citations· 11 references
TL;DR
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.
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.
It is concluded that childhood CF is being transformed rather than solved, and that surveillance, nutritional and psychosocial frameworks developed in the pre-modulator era require deliberate re-evaluation rather than uncritical continuation.
S. Bittmann, E. Luchter, E. Moschüring-Alieva· Asian Journal of Pediatric R...· 0 citations
Cystic fibrosis (CF) is one of the most common rare genetic diseases. It is caused by pathogenic variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2200 variants have been identified in the CFTR gene that need detailed knowledge and functional characterization in order to develop specific therapeutic strategies. The traditional therapy for CF relied on addressing symptoms through mucolytic and antibiotic treatments, respiratory physiotherapy and aerosol therapy. However, in the last few years, the development of small new molecules targeting and restoring the underlying CFTR channel defect marked an important step in CF treatment. In addition, the implementation of patient-specific cellular models allowed the evaluation of pharmacological responses, leading to therapeutic advances in the direction of personalized treatment. The focus of this review is to describe and discuss the strategies for restoring the CFTR functional defects depending on the specific CFTR pathogenic variants. In particular, the review highlights the possible application of experimental and clinical drugs to CF treatment, which may allow improvements in patients’ quality of life and life expectancy. The in vitro testing of therapeutic drugs (theratyping) is performed nowadays through the use of several cellular models, especially those derived from patient-specific tissues. This topic is a hot point in CF research and the review also aims to provide an overview of the state of the art in theratyping. The novelty of this review is the integrated view of the most recent achievements in precision diagnostics and therapy of CF at the molecular, cellular and clinical level, which are able to change the natural history of this disease.
Sara Allushi, M. Virgulti, Giovanna Blaconà et al.· International Journal of Mol...· 0 citations
A summary of recent literature pertaining to CFTR modulators is provided to enhance the knowledge of the growing body of evidence guiding the next era of CF care, in which disease modification at the molecular level is increasingly achievable.
Dawn Selhorst, E. Stekolchik· Respiratory care· 0 citations
Cystic fibrosis (CF) is a multisystem disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Allergic bronchopulmonary aspergillosis (ABPA) is a recognized complication in CF, with genetic variability potentially influencing susceptibility. This study aims to assess the distribution of CFTR genotype classes in CF patients with ABPA and explore their association with disease severity and baseline pulmonary function.
A retrospective cross-sectional study was conducted over a 10-year period, including patients <18 years with genetically confirmed CF and concomitant ABPA. CFTR mutation data were analyzed, and comparative analyses were performed across CFTR genotype classes.
Twenty-two patients were included, with a median age of 13.75 years at the time of ABPA diagnosis. CFTR mutations identified were predominantly classified as Class I (72.7%), followed by Class II (22.7%), with a single patient harboring a Class V mutation. Patients with Class II/V mutations showed lower growth indices and baseline pulmonary function compared to Class I, without statistical significance (
p
> 0.05). Chest CT findings were comparable between the groups, with bronchiectasis and bronchial wall thickening representing the most common radiological abnormalities.
CFTR genotype may influence clinical phenotype in CF patients with ABPA, with trends toward poorer growth and lung function in more severe mutation classes, although larger studies are needed to confirm these associations.
Maryam Fuad Ali, Hessa AlOtaibi, Talal Alzahrani et al.· Frontiers in Pediatrics· 0 citations
Introduction
. Cystic fibrosis is a hereditary disease associated with progressive damage to the bronchopulmonary system and the risk of disability. The introduction of triple CFTR modulators (ivacaftor/tezacaftor/elexaftor and ivacaftor) has significantly improved the prognosis. However, the high cost of the original drug Trikafta® and limited healthcare resources have driven interest in the bioequivalent generic drug Trilexa®.
Aim
. To evaluate the efficacy and safety of the pathogenetic therapy drugs Trikafta and Trilexa in children with cystic fibrosis in the Chechen Republic, as well as the transition from the original to the generic version within the same INN (ivacaftor + tezacaftor + elexacaftor and ivacaftor), in routine clinical practice.
Materials and methods
. A retrospective, single-center observational study was conducted in the Chechen Republic. The analysis included 22 patients under 18 years of age with a genotype corresponding to the indications for triple CFTR modulator therapy. Three groups were formed: Group 1 (n = 5) – treatment with Trikafta only; Group 2 (n = 2) – treatment with Trilexa only; Group 3 (n = 15) – patients switched from Trikafta to Trilexa. Changes in sweat chloride concentrations, body mass index (BMI), pulmonary function parameters (FEV₁, FVC), the frequency of pulmonary exacerbations, and the safety profile were assessed.
Results
. A decrease in sweat chloride concentrations was noted in all groups, indicating restoration of CFTR function. In Group 3, sweat chloride levels decreased from 91.0 to 41.0 mmol/L while on Trikafta and remained stable after switching to Trilexa. BMI significantly increased from 14.9 to 15.7 kg/m² during the Trikafta phase (p = 0.002) and continued to increase after switching to Trilexa. FEV₁ and FVC remained consistently high after switching (p > 0.05). The incidence of pulmonary exacerbations decreased and remained minimal while on Trilexa.
Conclusion.
The use of both the original drug and generic Trilexa in children with CF is associated with clinical improvements in key efficacy indicators and a favorable safety profile.
M. R. Shakhgireeva, A. Ibisheva, A. B. Khildikharoeva et al.· Meditsinskiy sovet = Medical...· 0 citations
The advent of CFTR modulators is fundamentally reshaping people with cystic fibrosis (pwCF) care and research. Despite unprecedented improvements in lung function and predicted survival, a substantial proportion of pwCF continue to exhibit residual disease activity (RDA) across multiple biological and clinical domains. Persistent abnormalities in CFTR function, mucus properties, mucociliary clearance, airway infection, inflammation and symptom burden indicate that CFTR modulation does not fully normalize airway physiology or eliminate the pathological processes underlying CF lung disease. This review proposes RDA as a conceptual framework for identifying ongoing, potentially modifiable disease processes in people receiving CFTR modulators. Candidate measures across complementary mechanistic and clinical domains are examined, and their potential multidimensional interpretation as a means of supporting more individualized monitoring and treatment decisions is discussed. We consider the implications of RDA for clinical research by identifying key evidence gaps, outlining a stepwise pathway for its definition and validation. We further explore the potential to inform sensitive endpoint selection, enrich study populations and guide the development of therapies targeting disease processes that persist despite CFTR modulation. As the CF population ages and disease trajectories evolve, care models and research priorities must move beyond conventional measures of disease severity alone. A better understanding and systematic evaluation of RDA may help align long-term clinical management and future trial design with the changing needs of people with CF, while ensuring that therapeutic advances translate into sustained health gains.
A. Gramegna, G. Putti, Gianfranco Alicandro et al.· American Journal of Respirat...· 0 citations
