Personalized medicine in cystic fibrosis: Dawning of a new era

John P. Clancy, Manu Jain*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

72 Scopus citations

Abstract

Life expectancy in cystic fibrosis (CF) has improved substantially over the last 75 years, with a median predicted survival now approaching 40 years. This improvement has resulted largely from therapies treating end-organ manifestations. In an effort to develop drugs that would target the underlying defects in the CF transmembrane conductance regulator (CFTR), the Cystic Fibrosis Foundation embarkedon a bold initiative in which it established collaborations with biopharmaceutical companies to support early-stage efforts to discover new medicines for CF. This has led to the development and clinical trial testing of several novel drugs targeting specific CFTR mutations. One drug, ivacaftor, was recently approved by the US Food and Drug Administration for the approximately4%of patients with CF who have the G551D gating mutation. Drugs targeting F508del CFTR and premature termination codons, which would be applicable to 90% of patients with CF, are undergoing clinical trials. The impact of such drugson CFTR biomarkers, such as sweat chloride and nasal potential difference, suggests that they may reset the clinical trajectory of CF, but their effect on long-term outcomes will remain unknown formany years.Nevertheless, development of CFTR-targeted drugs represents an important milestone in CF, perhaps revolutionizing the care of these patients in a fundamental way.

Original languageEnglish (US)
Pages (from-to)593-597
Number of pages5
JournalAmerican journal of respiratory and critical care medicine
Volume186
Issue number7
DOIs
StatePublished - Oct 1 2012

Keywords

  • CFTR
  • Corrector
  • Mutations
  • Potentiator
  • Suppressor

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Critical Care and Intensive Care Medicine

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