Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for ivacaftor therapy in the context of CFTR genotype

Clin Pharmacol Ther. 2014 Jun;95(6):592-7. doi: 10.1038/clpt.2014.54. Epub 2014 Mar 5.

Abstract

Cystic fibrosis (CF) is a life-shortening disease arising as a consequence of mutations within the CFTR gene. Novel therapeutics for CF are emerging that target CF transmembrane conductance regulator protein (CFTR) defects resulting from specific CFTR variants. Ivacaftor is a drug that potentiates CFTR gating function and is specifically indicated for CF patients with a particular CFTR variant, G551D-CFTR (rs75527207). Here, we provide therapeutic recommendations for ivacaftor based on preemptive CFTR genotype results.

Publication types

  • Practice Guideline
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aminophenols / therapeutic use*
  • Cystic Fibrosis / drug therapy*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Genetic Testing
  • Humans
  • Pharmacogenetics*
  • Quinolones / therapeutic use*
  • Risk Assessment

Substances

  • Aminophenols
  • Quinolones
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • ivacaftor