Related Experiment Video

Updated: May 2, 2026

Optimized LC-MS/MS Method for the High-throughput Analysis of Clinical Samples of Ivacaftor, Its Major Metabolites, and Lumacaftor in Biological Fluids of Cystic Fibrosis Patients
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Optimized LC-MS/MS Method for the High-throughput Analysis of Clinical Samples of Ivacaftor, Its Major Metabolites, and Lumacaftor in Biological Fluids of Cystic Fibrosis Patients

Published on: October 15, 2017

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

J P Clancy1, S G Johnson2, S W Yee3

  • 11] Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA [2] Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA.

Clinical Pharmacology and Therapeutics
|March 7, 2014
PubMed

Insights

This study provides treatment recommendations for ivacaftor, a drug for cystic fibrosis (CF). It is based on preemptive genetic testing for the CF transmembrane conductance regulator (CFTR) gene variant G551D.

Area of Science:

  • Medical Genetics
  • Pharmacology
  • Pulmonology

Background:

  • Cystic Fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene.
  • Emerging therapies target specific CFTR protein defects.
  • Ivacaftor is a CFTR potentiator approved for specific CFTR variants like G551D.

Purpose of the Study:

  • To establish therapeutic guidelines for ivacaftor administration.
  • To utilize preemptive CFTR genotype results for personalized treatment.

Main Methods:

  • Analysis of preemptive CFTR genotype data.
  • Correlation of genotype with ivacaftor efficacy.

Main Results:

  • Identification of G551D-CFTR variant (rs75527207) as a key indicator for ivacaftor treatment.
  • Development of a framework for ivacaftor therapeutic recommendations.

Conclusions:

  • Preemptive CFTR genotyping enables targeted ivacaftor therapy.
  • Personalized medicine approaches can optimize CF treatment outcomes.

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