Safety and efficacy of vanzacaftor-tezacaftor-deutivacaftor in adults with cystic fibrosis: Randomised, double-blind, controlled, phase 2 trials [PDF]
, 2023 BACKGROUND: Elexacaftor-tezacaftor-ivacaftor has been shown to be safe and efficacious in people with cystic fibrosis and at least one F508del allele. Our aim was to identify a novel cystic fibrosis transmembrane conductance regulator (CFTR) modulator ...
et al., +2 more
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Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del]
Current Issues in Molecular Biology, 2022 The presence of complex alleles in the CFTR gene can lead to difficulties in diagnosing cystic fibrosis and cause resistance to therapy with CFTR modulators.
Elena Kondratyeva +13 more
doaj +1 more source
CFTR Modulators in People with Cystic Fibrosis: Real-World Evidence in France
Cells, 2022 Cystic fibrosis (CF) is a rare genetic multisystemic disease, the manifestations of which are due to mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein and can lead to respiratory insufficiency and premature death ...
Lucile Regard +4 more
doaj +1 more source
Biomedicines, 2023 The new breakthrough cystic fibrosis (CF) drug combination of ivacaftor (IVA), tezacaftor (TEZ), and elexacaftor (ELX), namely “caftor” drugs, directly modulates the activity and trafficking of the defective CF transmembrane conductance regulator protein
Federica Pigliasco +12 more
doaj +1 more source
Gene Therapy: A Possible Alternative to CFTR Modulators?
Frontiers in Pharmacology, 2021 Cystic fibrosis (CF) is a rare genetic disease that affects several organs, but lung disease is the major cause of morbidity and mortality. The gene responsible for CF, the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, has been ...
J. Mercier +4 more
doaj +1 more source
Heterogeneity of weight gain after initiation of Elexacaftor/Tezacaftor/Ivacaftor in people with cystic fibrosis [PDF]
, 2023 Background: The introduction of the novel therapy, Elexacaftor/Tezacaftor/Ivacaftor (ETI) has been effective in improving weight gain in both clinical trials and real-world studies. However, the magnitude of this effect appears to be heterogeneous across
Aliberti, Stefano +9 more
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Different CFTR modulator combinations downregulate inflammation differently in cystic fibrosis
eLife, 2020 Previously, we showed that serum and monocytes from patients with CF exhibit an enhanced NLRP3-inflammasome signature with increased IL-18, IL-1β, caspase-1 activity and ASC speck release (Scambler et al. eLife 2019).
Heledd H Jarosz-Griffiths +13 more
doaj +1 more source
Worldwide rates of diagnosis and effective treatment for cystic fibrosis [PDF]
, 2022 BACKGROUND: Time has seen management for Cystic Fibrosis (CF) advance drastically, most recently in the development of the disease-modifying triple combination therapy ivacaftor/tezacaftor/elexacaftor.
Garratt, A, Guo, J, Hill, A
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Effects of CFTR modulators on serum biomarkers of liver fibrosis in children with cystic fibrosis
Hepatology Communications, 2023 The cystic fibrosis (CF) transmembrane conductance regulator corrector/potentiator combinations lumacaftor/ivacaftor and elexacaftor/tezacaftor/ivacaftor improve sweat chloride, pulmonary function, and nutrition.
Steven Levitte +3 more
doaj +1 more source
New era of cystic fibrosis: full mutational analysis and personalized therapy [PDF]
, 2017 Despite its apparently simple genetics, cystic fibrosis (CF) is a rather complex genetic disease. A lot of variability in the steps of the path from the cystic fibrosis transmembrane conductance regulator (CFTR ) gene to the clinical manifestations ...
Lucarelli, Marco
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