• Clin. Pharmacol. Ther. · Jun 2014

    Practice Guideline

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

    • J P Clancy, S G Johnson, S W Yee, E M McDonagh, K E Caudle, T E Klein, M Cannavo, K M Giacomini, and Clinical Pharmacogenetics Implementation Consortium.
    • 1] Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA [2] Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA.
    • Clin. Pharmacol. Ther. 2014 Jun 1;95(6):592-7.

    AbstractCystic 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.

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