Gene therapy for the respiratory manifestations of cystic fibrosis

Am J Respir Crit Care Med. 1995 Mar;151(3 Pt 2):S75-87. doi: 10.1164/ajrccm/151.3_Pt_2.S75.

Abstract

Cystic fibrosis (CF) is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The major manifestations are on the airway epithelial surface, with purulent mucus, recurrent infections, chronic inflammation, and loss of lung function. Consequent to mutations in both parental genes, airway epithelial cells have insufficient CFTR function. Because this can be corrected in vitro by transfer of the normal CFTR gene into airway epithelial cells, it is reasonable to hypothesize that the respiratory manifestations of CF could be prevented by transfer of the normal human CFTR cDNA to the airway epithelium in vivo. Over the past 6 years, our laboratory has developed a strategy to accomplish this goal using a replication deficient E1-E3- recombinant adenovirus (Ad) serotype 5 vector containing the normal human CFTR cDNA (AdCFTR). Studies with experimental animals demonstrate that with administration of such a vector to the airways, the human CFTR cDNA could be transferred to the airway epithelium, with expression of the human CFTR cDNA for at least 6 weeks. Extensive preclinical studies in vitro and in vivo demonstrated that the risks to humans were sufficiently low to initiate a Phase I trial using the AdCFTR vector to treat the respiratory manifestations of CF in humans. Following approval by the National Heart, Lung, and Blood Institute Institutional Review Board, the National Institutes of Health Biosafety Committee, the National Institutes of Health Recombinant DNA Advisory Committee, and the Food and Drug Administration, we initiated the first human trial of gene therapy for CF on April 17, 1993. The clinical study is still ongoing, with safety and efficacy data being evaluated, but there is clear evidence that it is feasible to transfer and express the normal CFTR cDNA to the airway epithelium in vivo in individuals with CF.

Publication types

  • Review

MeSH terms

  • Adenoviridae / genetics
  • Animals
  • Chloride Channels / genetics
  • Chloride Channels / physiology
  • Clinical Trials as Topic
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / therapy*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA, Complementary / genetics
  • Epithelium / metabolism
  • Gene Expression Regulation
  • Genetic Therapy*
  • Genetic Vectors
  • Humans
  • Lung / metabolism
  • Lung / physiopathology*
  • Membrane Proteins / genetics
  • Membrane Proteins / physiology

Substances

  • CFTR protein, human
  • Chloride Channels
  • DNA, Complementary
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator