title: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for ivacaftor therapy in the context of CFTR genotype.
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.
authors.affiliation: 1] Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA [2] Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA.
authors.forename: J P
authors.initials: JP
authors.lastname: Clancy
authors.affiliation: 1] Department of Clinical Pharmacy, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado, Denver, Colorado, USA [2] Clinical Pharmacy Services, Kaiser Permanente Colorado, Denver, Colorado, USA.
authors.forename: S G
authors.initials: SG
authors.lastname: Johnson
authors.affiliation: Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, California, USA.
authors.forename: S W
authors.initials: SW
authors.lastname: Yee
authors.affiliation: Department of Genetics, Stanford University Medical Center, Stanford, California, USA.
authors.forename: E M
authors.initials: EM
authors.lastname: McDonagh
authors.affiliation: Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
authors.forename: K E
authors.initials: KE
authors.lastname: Caudle
authors.affiliation: Department of Genetics, Stanford University Medical Center, Stanford, California, USA.
authors.forename: T E
authors.initials: TE
authors.lastname: Klein
authors.affiliation: Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
authors.forename: M
authors.initials: M
authors.lastname: Cannavo
authors.affiliation: Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, California, USA.
authors.forename: K M
authors.initials: KM
authors.lastname: Giacomini
mesh_terms: D000627:Aminophenols / Q000627:therapeutic use*; D003550:Cystic Fibrosis / Q000188:drug therapy*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D010597:Pharmacogenetics; D015363:Quinolones / Q000627:therapeutic use*; D018570:Risk Assessment
chemical_list: D000627:Aminophenols; D015363:Quinolones; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; C545203:ivacaftor