Therapeutic strategies to correct malfunction of CFTR

Paediatr Respir Rev. 2001 Jun;2(2):159-64. doi: 10.1053/prrv.2000.0124.


Cystic fibrosis (CF) is a systemic autosomal recessive inherited disorder that results from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Although the gene was cloned 11 years ago, there still is no definitive treatment to correct the functional deficit. Current treatment strategies focus on pancreatic enzyme replacement and control of pulmonary inflammation and infection. This review examines novel strategies still in preclinical development or phase 1 clinical trials. Gene therapy is an evolving area of study that offers the potential for a cure for cystic fibrosis. CF lung disease is a significant barrier to effective gene delivery and transfer, but new vectors show promise in overcoming these limitations. There are also new pharmacological therapies aimed at correcting defects in CFTR processing and function. These are tailored to the specific class of mutation but may offer therapeutic benefit to many patients. They include phenylbutyrate, flavonoids, aminoglycosides and xanthines.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Child
  • Child, Preschool
  • Clinical Trials, Phase I as Topic
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / therapy*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Gene Transfer Techniques
  • Genetic Therapy / methods*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation
  • Prognosis
  • Risk Assessment
  • Severity of Illness Index
  • Treatment Outcome


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator