A new era in the treatment of cystic fibrosis: Correction of the underlying CFTR defect

Michael P. Boyle, Kris De Boeck

Research output: Contribution to journalReview articlepeer-review

Abstract

Cystic fibrosis is caused by dysfunction or deficiency of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, an epithelial chloride channel that has a key role in maintaining homoeostasis of the airway surface liquid layer in the lungs. More than 1900 CFTR mutations that might result in a disease phenotype have been identified; these can be grouped into classes on the basis of their effect on CFTR protein production, trafficking, function, and stability. In the past 2 years, landmark clinical trials have shown that correction of CFTR function leads to substantial clinical benefit for individuals with cystic fibrosis. These findings are ushering in a new era of cystic fibrosis treatments designed to correct the underlying CFTR defect caused by different mutation classes. With analysis of continuing trials and available patient registries, here we assess mutation types and the number and geographical distribution of patients who are likely to benefit from CFTR-correcting treatment.

Original languageEnglish (US)
Pages (from-to)158-163
Number of pages6
JournalThe Lancet Respiratory Medicine
Volume1
Issue number2
DOIs
StatePublished - Apr 2013

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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