Review of the new clinical guidelines for cystic fibrosis

Cystic fibrosis (CF) remains one of the most studied inherited multisystem diseases, in which Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein dysfunction leads to progressive respiratory failure, exocrine and endocrine pancreatic insufficiency, and other organs involvement. Over the past decades, approaches to CF diagnosis and treatment have changed significantly due to the neonatal screening introduction, the development of molecular genetic diagnostic methods, and, especially, the advent of targeted therapy – CFTR modulators. Updated clinical guidelines for cystic fibrosis were published in 2025, reflecting not only current scientific data but also Russian clinical experience with the use of CFTR modulators registered in Russia, including the most effective combination of elexacaftor/tezacaftor/ivacaftor + ivacaftor. This updated document aims to clarify diagnostic and therapeutic approaches in the new conditions for the provision of medical care for patients with CF and carriers of pathogenic CFTR gene variants.

The aim is to review the key new additions to the 2025 clinical guidelines (CG) and discuss their practical implications for physicians involved in the care of patients with CF.

Methods. Eighty experts from various specialties worked on the new guidelines using 520 literary sources.

Results. The updated 2025 cystic fibrosis clinical guidelines contain updated sections on molecular genetic and microbiological testing, pulmonary mycobacteriosis treatment, and new antimicrobial agents for treatment of respiratory tract infections. The features of CFTR modulator therapy (elexacaftor/tezacaftor/ivacaftor + ivacaftor), off-label drug administration, and post-organ transplantation are described for the first time. Special attention is given to subsections devoted to changes in CF basic therapy during treatment with CFTR modulators, adverse reactions, heterozygous carriers of a pathogenic CFTR variant, and the spectrum of CFTR-related diseases, the course of pregnancy during treatment with CFTR modulators, and monitoring newborns of mothers receiving this therapy.

Conclusion. This updated version of the clinical guidelines incorporates current information and will improve the diagnosis and treatment of cystic fibrosis and standardize the care of pathogenic CFTR gene variants carriers and individuals with CFTR-associated conditions in Russia.

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