Cited by 1,088Cystic Fibrosis Research AdvancesIon Transport and Channel RegulationInhalation and Respiratory Drug Delivery

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Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809

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Van Goor, Fredrick, Hadida, Sabine, Grootenhuis, Peter D. J., Burton, Bill, Stack, Jeffrey H., Straley, Kimberly S., Decker, Caroline J., Miller, Mark, McCartney, Jason, Olson, Eric R., Wine, Jeffrey J., Frizzell, Ray A., Ashlock, Melissa, Negulescu, Paul A.·2011·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.1105787108PMC PMC3219147

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Abstract

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator ( CFTR ) gene that impair the function of CFTR, an epithelial chloride channel required for proper function of the lung, pancreas, and other organs. Most patients with CF carry the F508del CFTR mutation, which causes defective CFTR protein folding and processing in the endoplasmic reticulum, resulting in minimal amounts of CFTR at the cell surface. One strategy to treat these patients is to correct the processing of F508del-CFTR with small molecules. Here we describe the in vitro pharmacology of VX-809, a CFTR corrector that was advanced into clinical development for the treatment of CF. In cultured human bronchial epithelial cells isolated from patients with CF homozygous for F508del, VX-809 improved F508del-CFTR processing in the endoplasmic reticulum and enhanced chloride secretion to approximately 14% of non-CF human bronchial epithelial cells (EC 50 , 81 ± 19 nM), a level associated with mild CF in patients with less disruptive CFTR mutations. F508del-CFTR corrected by VX-809 exhibited biochemical and functional characteristics similar to normal CFTR, including biochemical susceptibility to proteolysis, residence time in the plasma membrane, and single-channel open probability. VX-809 was more efficacious and selective for CFTR than previously reported CFTR correctors. VX-809 represents a class of CFTR corrector that specifically addresses the underlying processing defect in F508del-CFTR.

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Authors: Van Goor, F., Hadida, S., Grootenhuis, P. D. J., Burton, B., Stack, J. H., Straley, K. S., Decker, C. J., Miller, M., McCartney, J., Olson, E. R., Wine, J. J., Frizzell, R. A., Ashlock, M., & Negulescu, P. A.
Affiliations: Vertex Pharmaceuticals, San Diego, CA 92121;
Vertex Pharmaceuticals (United States) (US)
Stanford University (US)
Department of Cell Biology and Physiology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261; and
Cystic Fibrosis Foundation (US)
Corresponding author: Negulescu, Paul A.
ORCID: Miller, Mark
Olson, Eric R.
Wine, Jeffrey J.
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2011-10-05
Volume: 108
Issue: 46
Pages: 18843-18848
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.1105787108
PMC: PMC3219147
OpenAlex: W2071407356
Cited by: 1,088
References: 44
Citations by year: 2026: 24 · 2025: 48 · 2024: 48 · 2023: 57 · 2022: 64 · 2021: 83 · 2020: 98 · 2019: 95 · 2018: 101 · 2017: 103 · 2016: 77 · 2015: 85 · 2014: 84 · 2013: 61 · 2012: 58
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Cystic Fibrosis Foundation Therapeutics
Topics: Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion Transport and Channel Regulation
Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Inhalation and Respiratory Drug Delivery
Keywords: cystic fibrosis, F508del-CFTR, CFTR correctors, lumacaftor, endoplasmic reticulum retention, chloride secretion, bronchial epithelial cells, CFTR mutations
MeSH terms: Aminopyridines, Bronchi, Cell Line, Cells, Cultured, Chemistry, Pharmaceutical, Chlorides, Cystic Fibrosis, Drug Evaluation, Preclinical, Epithelial Cells, Homozygote, Humans, Lung, Models, Genetic, Mutation, Drug Design, Cystic Fibrosis Transmembrane Conductance Regulator, Benzodioxoles, In Vitro Techniques

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Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809

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