CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine

Frontiers in Pharmacology
Miquéias Lopes-Pacheco

Abstract

Cystic fibrosis (CF) is a lethal inherited disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, which result in impairment of CFTR mRNA and protein expression, function, stability or a combination of these. Although CF leads to multifaceted clinical manifestations, the respiratory disorder represents the major cause of morbidity and mortality of these patients. The life expectancy of CF patients has substantially lengthened due to early diagnosis and improvements in symptomatic therapeutic regimens. Quality of life remains nevertheless limited, as these individuals are subjected to considerable clinical, psychosocial and economic burdens. Since the discovery of the CFTR gene in 1989, tremendous efforts have been made to develop therapies acting more upstream on the pathogenesis cascade, thereby overcoming the underlying dysfunctions caused by CFTR mutations. In this line, the advances in cell-based high-throughput screenings have been facilitating the fast-tracking of CFTR modulators. These modulator drugs have the ability to enhance or even restore the functional expression of specific CF-causing mutations, and they have been classified into five main groups depending on their effects on CFTR ...Continue Reading

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Methods Mentioned

BETA
glycosylation
protein folding
electron cryomicroscopy
pharmacotherapies
environmental stresses
GTPase
Antisense oligonucleotides

Clinical Trials Mentioned

NCT00909532
NCT01225211
NCT01531673
NCT01705145
NCT01784419
NCT01807923
NCT01807949
NCT01897233
NCT01931839
NCT01937325

Software Mentioned

Symkevi
SpliSense
Symdeko

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