Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Ivacaftor Therapy in the Context of CFTR Genotype

被引:44
作者
Clancy, J. P. [1 ,2 ]
Johnson, S. G. [3 ,4 ]
Yee, S. W. [5 ]
McDonagh, E. M. [6 ]
Caudle, K. E. [7 ]
Klein, T. E. [6 ]
Cannavo, M. [7 ]
Giacomini, K. M. [5 ]
机构
[1] Cincinnati Childrens Hosp, Med Ctr, Div Pulm Med, Cincinnati, OH USA
[2] Univ Cincinnati, Dept Pediat, Cincinnati, OH 45221 USA
[3] Univ Colorado, Skaggs Sch Pharm & Pharmaceut Sci, Dept Clin Pharm, Denver, CO 80202 USA
[4] Kaiser Permanente Colorado, Clin Pharm Serv, Denver, CO USA
[5] Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA
[6] Stanford Univ, Med Ctr, Dept Genet, Stanford, CA 94305 USA
[7] St Jude Childrens Res Hosp, Dept Pharmaceut Sci, Memphis, TN 38105 USA
基金
美国国家卫生研究院;
关键词
TRANSMEMBRANE CONDUCTANCE REGULATOR; CYSTIC-FIBROSIS GENE; PERICILIARY LIQUID; IN-VITRO; MUTATION; IDENTIFICATION; PATHOGENESIS; INFLAMMATION; POTENTIATOR; CHANNEL;
D O I
10.1038/clpt.2014.54
中图分类号
R9 [药学];
学科分类号
1007 ;
摘要
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.
引用
收藏
页码:592 / 597
页数:6
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