Experience with off-label elexacaftor/tezacaftor/ivacaftor + ivacaftor therapy in a 2-month-old child with cystic fibrosis
https://doi.org/10.18093/0869-0189-2026-36-2-273-280
Abstract
Cystic fibrosis (CF) is a hereditary disease caused by mutations in the CFTR gene, which lead to dysfunction of the chloride channel protein. CFTR modulators correct the function of the defective protein and were a breakthrough. Ivacaftor/lumacaftor and elexacaftor/tezacaftor/ivacaftor combinations are registered in Russia, but their use is officially approved only for children aged 2 years and older.
The aim of the study was to present the first clinical case report describing the successful use of elexacaftor/tezacaftor/ivacaftor therapy in a 2-month-old critically ill patient with progressive respiratory failure. The drug was prescribed off-label by a committee decision. The treatment achieved a rapid, significant positive effect without serious adverse reactions, allowing the child to recover from a terminal condition.
Conclusion. This case demonstrates the feasibility and effectiveness of emergency use of modern CFTR modulators in infants with life-threatening CF. This successful experience justifies the need to revise and possibly expand the age-specific indications for targeted CF therapy in the clinical guidelines.
About the Authors
S. Yu. Semykin
Russian Children’s Clinical Hospital, the Branch of the Russian National Research Medical University named after N.I. Pirogov
Russian Federation
Russian Federation
Sergey Yu. Semykin, Candidate of Medicine, Head of the Pediatric Department
Leninskiy prospect 117, build. 1, Moscow, 119571
O. G. Kositskaia
Federal State Autonomous Educational Institution of Higher Education “N.I.Pirogov Russian National Research Medical University” of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Oksana G. Kositskaia, Assistant Professor, Academician V.A.Tabolin Department of Hospital Paediatrics, Institute of Motherhood and Childhood, Federal State Autonomous Educational Institution of Higher Education “N.I.Pirogov Russian National Research Medical University” of the Ministry of Health of the Russian Federation; Chairman of the Executive Board of Russian Respiratory Society
ul. Ostrovityanova 1, Moscow, 117997
Author ID: 881007
E. E. Petryaykina
Russian Children’s Clinical Hospital, the Branch of the Russian National Research Medical University named after N.I. Pirogov
Russian Federation
Russian Federation
Elena E. Petryaykina, Doctor of Medicine, Professor, Chief
Leninskiy prospect 117, build. 1, Moscow, 119571
A. V. Pytal
Russian Children’s Clinical Hospital, the Branch of the Russian National Research Medical University named after N.I. Pirogov
Russian Federation
Russian Federation
Anna V. Pytal, Head of the intensive care unit
Leninskiy prospect 117, build. 1, Moscow, 119571
D. V. Prometnoy
Russian Children’s Clinical Hospital, the Branch of the Russian National Research Medical University named after N.I. Pirogov
Russian Federation
Russian Federation
Dmitry V. Prometneu, Doctor of Medicine, Deputy Chief Physician for Anesthesiology and resuscitation
Leninskiy prospect 117, build. 1, Moscow, 119571
(SPIN-code: 10749498
E. A. Putilina
Russian Children’s Clinical Hospital, the Branch of the Russian National Research Medical University named after N.I. Pirogov
Russian Federation
Russian Federation
Ekaterina A. Putilina, Chief Physician
Leninskiy prospect 117, build. 1, Moscow, 119571
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For citations:
Semykin S.Yu., Kositskaia O.G., Petryaykina E.E., Pytal A.V., Prometnoy D.V., Putilina E.A. Experience with off-label elexacaftor/tezacaftor/ivacaftor + ivacaftor therapy in a 2-month-old child with cystic fibrosis. PULMONOLOGIYA. 2026;36(2):273-280. (In Russ.) https://doi.org/10.18093/0869-0189-2026-36-2-273-280
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