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Rapid therapeutic advances in CFTR modulator science
Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by variants in the gene encoding the cystic fibrosis transmembrane conduction regulator (CFTR) protein. Loss of CFTR function disrupts chloride, bicarbonate and regulation of sodium transport, producing a cascade of mucus obstruct...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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John Wiley and Sons Inc.
2018
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585954/ https://www.ncbi.nlm.nih.gov/pubmed/30289627 http://dx.doi.org/10.1002/ppul.24157 |
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author | Clancy, John P. |
author_facet | Clancy, John P. |
author_sort | Clancy, John P. |
collection | PubMed |
description | Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by variants in the gene encoding the cystic fibrosis transmembrane conduction regulator (CFTR) protein. Loss of CFTR function disrupts chloride, bicarbonate and regulation of sodium transport, producing a cascade of mucus obstruction, inflammation, pulmonary infection, and ultimately damage in numerous organs. Established CF therapies treat the downstream consequences of CFTR dysfunction and have led to steady improvements in patient survival. A class of drugs termed CFTR modulators has recently entered the CF therapeutic landscape. These drugs differ fundamentally from prior therapies in that they aim to improve the function of disease‐causing CFTR variants. This review summarizes the science behind CFTR modulators, including their targets, mechanism of action, clinical benefit, and future directions in the field. CFTR modulators have dramatically changed how CF is treated, validated CFTR as a therapeutic target, and opened the door to truly personalized therapies and treatment regimens. |
format | Online Article Text |
id | pubmed-6585954 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-65859542019-06-27 Rapid therapeutic advances in CFTR modulator science Clancy, John P. Pediatr Pulmonol Translational Reviews Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by variants in the gene encoding the cystic fibrosis transmembrane conduction regulator (CFTR) protein. Loss of CFTR function disrupts chloride, bicarbonate and regulation of sodium transport, producing a cascade of mucus obstruction, inflammation, pulmonary infection, and ultimately damage in numerous organs. Established CF therapies treat the downstream consequences of CFTR dysfunction and have led to steady improvements in patient survival. A class of drugs termed CFTR modulators has recently entered the CF therapeutic landscape. These drugs differ fundamentally from prior therapies in that they aim to improve the function of disease‐causing CFTR variants. This review summarizes the science behind CFTR modulators, including their targets, mechanism of action, clinical benefit, and future directions in the field. CFTR modulators have dramatically changed how CF is treated, validated CFTR as a therapeutic target, and opened the door to truly personalized therapies and treatment regimens. John Wiley and Sons Inc. 2018-10-05 2018-11 /pmc/articles/PMC6585954/ /pubmed/30289627 http://dx.doi.org/10.1002/ppul.24157 Text en © 2018 The Authors. Pediatric Pulmonology Published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
spellingShingle | Translational Reviews Clancy, John P. Rapid therapeutic advances in CFTR modulator science |
title | Rapid therapeutic advances in CFTR modulator science |
title_full | Rapid therapeutic advances in CFTR modulator science |
title_fullStr | Rapid therapeutic advances in CFTR modulator science |
title_full_unstemmed | Rapid therapeutic advances in CFTR modulator science |
title_short | Rapid therapeutic advances in CFTR modulator science |
title_sort | rapid therapeutic advances in cftr modulator science |
topic | Translational Reviews |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585954/ https://www.ncbi.nlm.nih.gov/pubmed/30289627 http://dx.doi.org/10.1002/ppul.24157 |
work_keys_str_mv | AT clancyjohnp rapidtherapeuticadvancesincftrmodulatorscience |