Cystic fibrosis (CF) therapy has traditionally been based on the treatment of symptoms and infections, rather than targeting the underlying defect caused by variants in the CFTR gene. Ivacaftor is the first FDA-approved drug to specifically target a particular defect of the CFTR protein. It is indicated for use in patients who have at least one allele carrying the G551D variant (rs75527207 genotype AA or AG), which is present in around 4.4% of CF patients.
CPIC have published therapeutic guidelines for ivacaftor based on CFTR genotype in the Clinical Pharmacology & Therapeutics journal. Interactive versions of these guidelines are available on PharmGKB, along with the manuscript and supplement.
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Clinical Pharmacogenetics ImplementationConsortium (CPIC) Guidelines for Ivacaftor Therapy in the context of CysticFibrosis Transmembrane Conductance Regulator (CFTR) Genotype.
John P. Clancy, Samuel G. Johnson, Sook Wah Yee, Ellen M. McDonagh, Kelly E. Caudle, Teri E. Klein, Matthew Cannavo, Kathleen M Giacomini.
Clinical Pharmacology & Therapeutics. (Accepted article preview).