Evidence for safety and efficacy of DOTAP cationic liposome mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis

Gene Ther. 1997 Mar;4(3):210-8. doi: 10.1038/sj.gt.3300390.

Abstract

In cystic fibrosis (CF), mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene results in defective transepithelial ion transport, leading to life shortening inflammatory lung disease. Before lung studies, we tested the safety and efficacy of gene delivery to the nasal epithelium of CF patients using pCMV-CFTR-DOTAP cationic liposome complex. A single dose of 400 micrograms pCMV-CFTR:2.4 mg DOTAP was administered in a randomised, double-blinded fashion to the nasal epithelium of eight CF patients, with a further eight receiving buffer only. Patients were monitored for signs and symptoms for 2 weeks before treatment and 4 weeks after treatment. Inflammatory cells were quantified in a nasal biopsy taken 3 days after treatment. There was no evidence for excess nasal inflammation, circulating inflammatory markers or other adverse events ascribable to active treatment. Gene transfer and expression were assayed by the polymerase chain reaction. Transgene DNA was detected in seven of the eight treated patients up to 28 days after treatment and vector derived CFTR mRNA in two of the seven patients at +3 and +7 days. Transepithelial ion transport was assayed before and after treatment by nasal potential difference during drug perfusion and by SPQ fluorescence halide ion conductance. Partial, sustained correction of CFTR-related functional changes toward normal values were detected in two treated patients. The level of gene transfer and functional correction were comparable to those reported previously using adenoviral vectors or another DNA-liposome complex, but here were sustained and uncompromised by false positives. These results justify further studies with pCMV-CFTR-DOTAP aimed at treating CF lung disease.

Publication types

  • Clinical Trial
  • Randomized Controlled Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cystic Fibrosis / physiopathology
  • Cystic Fibrosis / therapy*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Electrophysiology
  • Fatty Acids, Monounsaturated
  • Female
  • Fluorescent Dyes
  • Gene Expression
  • Gene Transfer Techniques*
  • Genetic Therapy / methods*
  • Humans
  • Liposomes
  • Male
  • Nasal Mucosa* / physiopathology
  • Polymerase Chain Reaction
  • Quaternary Ammonium Compounds
  • RNA, Messenger / analysis
  • Safety

Substances

  • CFTR protein, human
  • Fatty Acids, Monounsaturated
  • Fluorescent Dyes
  • Liposomes
  • Quaternary Ammonium Compounds
  • RNA, Messenger
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • 1,2-dioleoyloxy-3-(trimethylammonium)propane