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.
> Read the article:
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).
