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Review
. 2021 Dec;17(4):210112.
doi: 10.1183/20734735.0112-2021.

Progress in precision medicine in cystic fibrosis: a focus on CFTR modulator therapy

Daniel H Tewkesbury  1   2 , Rebecca C Robey  2   3 , Peter J Barry  1   2
Affiliations
Review

Progress in precision medicine in cystic fibrosis: a focus on CFTR modulator therapy

Daniel H Tewkesbury et al. Breathe (Sheff). 2021 Dec.

Abstract

The genetic multisystem condition cystic fibrosis (CF) has seen a paradigm shift in therapeutic approaches within the past decade. Since the first clinical descriptions in the 1930s, treatment advances had focused on the downstream consequences of a dysfunctional cystic fibrosis transmembrane conductance regulator (CFTR) chloride ion channel. The discovery of the gene that codes for CFTR and an understanding of the way in which different genetic mutations lead to disruption of normal CFTR function have led to the creation and subsequent licensing of drugs that target this process. This marks an important move towards precision medicine in CF and results from clinical trials and real-world clinical practice have been impressive. In this review we outline how CFTR modulator drugs restore function to the CFTR protein and the progress that is being made in this field. We also describe the real-world impact of CFTR modulators on both pulmonary and multisystem complications of CF and what this will mean for the future of CF care.

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Conflict of interest statement

Conflict of interest: Conflicts of interestP.J. Barry reports receiving consulting fees from Vertex pharmaceuticals, Insmed pharmaceuticals and Gilead, outside the submitted work. Payment or honoraria for lectures, presentations, speakers’ bureaus, manuscript writing or educational events received from Vertex pharmaceuticals and Gilead pharmaceuticals, outside the submitted work. D.H. Tewkesbury and R.C. Robey have nothing to disclose.

Figures

Figure 1
Figure 1
Timeline of treatment advances in CF.
Figure 2
Figure 2
Mechanisms by which mutations in the CF gene can disrupt normal CFTR function.
Figure 3
Figure 3
Reported and potential respiratory and multisystem effects of CFTR modulators. GORD: gastro-oesophageal reflux disease.
See this image and copyright information in PMC

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