Regional intravascular delivery of AAV-2-F.IX to skeletal muscle achieves long-term correction of hemophilia B in a large animal model

Blood. 2005 May 1;105(9):3458-64. doi: 10.1182/blood-2004-07-2908. Epub 2004 Oct 12.

Abstract

In earlier work, we showed that adeno-associated virus-mediated delivery of a Factor IX gene to skeletal muscle by direct intramuscular injection resulted in therapeutic levels of circulating Factor IX in mice. However, achievement of target doses in humans proved impractical because of the large number of injections required. We used a novel intravascular delivery technique to achieve successful transduction of extensive areas of skeletal muscle in a large animal with hemophilia. We provide here the first report of long-term (> 3 years, with observation ongoing), robust Factor IX expression (circulating levels of 4%-14%) by muscle-directed gene transfer in a large animal, resulting in essentially complete correction of the bleeding disorder in hemophilic dogs. The results of this translational study establish an experimental basis for clinical studies of this delivery method in humans with hemophilia B. These findings also have immediate relevance for gene transfer in patients with muscular dystrophy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenoviridae / genetics
  • Animals
  • Dogs
  • Drug Delivery Systems
  • Factor IX / administration & dosage*
  • Factor IX / pharmacokinetics
  • Factor IX / toxicity
  • Genetic Therapy / methods*
  • Hemophilia B / therapy*
  • Injections, Intravenous
  • Models, Animal
  • Muscle, Skeletal / metabolism*
  • Muscular Dystrophies / therapy
  • Tissue Distribution
  • Transduction, Genetic

Substances

  • Factor IX