Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy

Hum Gene Ther. 2004 Nov;15(11):1065-76. doi: 10.1089/hum.2004.15.1065.

Abstract

Nine patients with Duchenne or Becker muscular dystrophy were injected via the radialis muscle with a full-length human dystrophin plasmid, either once with 200 or 600 microg of DNA or twice, 2 weeks apart, with 600 microg of DNA. In the biopsies taken 3 weeks after the initial injection, the vector was detected at the injection site in all patients. Immunohistochemistry and nested reverse transcription-polymerase chain reaction indicated dystrophin expression in six of nine patients. The level of expression was low (up to 6% weak, but complete sarcolemmal dystrophin staining, and up to 26% partial sarcolemmal labeling). No side effects were observed, nor any cellular or humoral anti-dystrophin responses. These results suggest that exogenous dystrophin expression can be obtained in Duchenne/Becker patients after intramuscular transfer of plasmid, without adverse effects, hence paving the way for future developments in gene therapy of hereditary muscular diseases.

Publication types

  • Clinical Trial
  • Clinical Trial, Phase I
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Biopsy
  • Cohort Studies
  • Dystrophin / biosynthesis
  • Dystrophin / genetics*
  • Gene Transfer Techniques
  • Genetic Therapy / methods*
  • Genetic Vectors
  • Histocompatibility Testing
  • Humans
  • Immunohistochemistry
  • Middle Aged
  • Models, Genetic
  • Muscle, Skeletal / metabolism
  • Muscles / metabolism
  • Muscles / pathology
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / therapy*
  • Plasmids / metabolism
  • Promoter Regions, Genetic
  • RNA, Messenger / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Time Factors

Substances

  • Dystrophin
  • RNA, Messenger