Correction of hemophilia B in canine and murine models using recombinant adeno-associated viral vectors

Nat Med. 1999 Jan;5(1):64-70. doi: 10.1038/4751.

Abstract

Hemophilia B, or factor IX deficiency, is an X-linked recessive disorder occurring in about 1 in 25,000 males. Affected individuals are at risk for spontaneous bleeding into many organs; treatment mainly consists of the transfusion of clotting factor concentrates prepared from human blood or recombinant sources after bleeding has started. Small- and large-animal models have been developed and/or characterized that closely mimic the human disease state. As a preclinical model for gene therapy, recombinant adeno-associated viral vectors containing the human or canine factor IX cDNAs were infused into the livers of murine and canine models of hemophilia B, respectively. There was no associated toxicity with infusion in either animal model. Constitutive expression of factor IX was observed, which resulted in the correction of the bleeding disorder over a period of over 17 months in mice. Mice with a steady-state concentration of 25% of the normal human level of factor IX had normal coagulation. In hemophilic dogs, a dose of rAAV that was approximately 1/10 per body weight that given to mice resulted in 1% of normal canine factor IX levels, the absence of inhibitors, and a sustained partial correction of the coagulation defect for at least 8 months.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Antibodies / blood
  • Bleeding Time
  • Cell Transformation, Viral
  • Dependovirus*
  • Disease Models, Animal
  • Dogs
  • Factor IX / genetics*
  • Genetic Therapy*
  • Genetic Vectors*
  • Hemophilia B / therapy*
  • Humans
  • Liver
  • Mice
  • Mice, Inbred C57BL
  • Recombination, Genetic

Substances

  • Antibodies
  • Factor IX