Update in Cystic Fibrosis 2014.

Abstract

The clinical face of cystic fibrosis (CF) has significantly changed over the 25 years since its basic genetic defect was discovered (1). Increasing numbers of patients are diagnosed at newborn screening, and soon the majority of the CF population will be adult patients (2). With the 2012 approval of the first cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy, ivacaftor, the CF community has been able to experience the clinical and biological impact of this therapeutic approach in a small subset of patients with the G551D mutation (3). The findings are very encouraging and push investigators and clinicians to move forward with the development of additional modulators to improve the health of the majority of patients in the future. As a result, worldwide scientific collaborations have contributed to advances in therapeutics with the eventual goal of early intervention before the onset of symptoms. At the same time, the research community continues to elucidate the fundamental mechanisms of disease. In this article, we highlight some of the important scientific developments of 2014 with a focus on CFTR function and its complex role in mucociliary clearance (MCC), microbiology, and inflammation of the airway. In addition, advances in novel therapeutics and clinical outcomes are reviewed, with discussion of how those advances are impacting the field. CFTR Function and Its Role in MCC