RT Journal Article
SR Electronic
T1 Progress in precision medicine in cystic fibrosis: a focus on CFTR modulator therapy
JF Breathe
JO Breathe
FD European Respiratory Society
SP 210112
DO 10.1183/20734735.0112-2021
VO 17
IS 4
A1 Tewkesbury, Daniel H.
A1 Robey, Rebecca C.
A1 Barry, Peter J.
YR 2021
UL http://breathe.ersjournals.com/content/17/4/210112.abstract
AB 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.CFTR modulator drugs target the underlying cellular defect in cystic fibrosis. They have a range of pulmonary and multisystem effects and are leading to a transformation of care for a majority of people with cystic fibrosis. https://bit.ly/3nfEt8i