Vnitr Lek 2025, 71(4):228-232 | DOI: 10.36290/vnl.2025.042

CFTR Modulator Therapy of cystic fibrosis

Libor Fila
Pneumologická klinika 2. LF UK a FN Motol, Praha

Cystic fibrosis (CF) is a hereditary disease caused by pathogenic variants of the CFTR gene. It is mainly manifested by chronic sinopulmonary disease, digestive tract involvement with nutritional status disorders, high sweat chloride concentration and obstructive azoospermia. In addition to traditional symptomatic treatment, modulator therapy has become available in recent years, which targets the missing or dysfunctional CFTR protein. For carriers of at least one F508del mutation, treatment with a combination of elexacaftor, tezacaftor and ivacaftor is indicated; among other mutations, carriers of so-called gating mutations (e.g. G551D) are suitable for ivacaftor monotherapy. Modulator therapy has been shown in clinical trials to improve lung function, nutritional status, and quality of life, and leads to a significantly better prognosis for patients with CF. The main disadvantage of modulator therapy is its high cost.

Keywords: CFTR gene, CFTR modulators, cystic fibrosis.

Accepted: June 3, 2025; Published: June 19, 2025  Show citation

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Fila L. CFTR Modulator Therapy of cystic fibrosis. Vnitr Lek. 2025;71(4):228-232. doi: 10.36290/vnl.2025.042.
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