The efficacy and the risk of immunogenicity of FIX Padua (R338L) in hemophilia B dogs treated by AAV muscle gene therapy

Blood. 2012 Nov 29;120(23):4521-3. doi: 10.1182/blood-2012-06-440123. Epub 2012 Aug 23.

Abstract

Studies on gene therapy for hemophilia B (HB) using adeno-associated viral (AAV) vectors showed that the safety of a given strategy is directly related to the vector dose. To overcome this limitation, we sought to test the efficacy and the risk of immunogenicity of a novel factor IX (FIX) R338L associated with ∼ 8-fold increased specific activity. Muscle-directed expression of canine FIX-R338L by AAV vectors was carried out in HB dogs. Therapeutic levels of circulating canine FIX activity (3.5%-8%) showed 8- to 9-fold increased specific activity, similar to humans with FIX-R338L. Phenotypic improvement was documented by the lack of bleeding episodes for a cumulative 5-year observation. No antibody formation and T-cell responses to FIX-R338L were observed, even on challenges with FIX wild-type protein. Moreover, no adverse vascular thrombotic complications were noted. Thus, FIX-R338L provides an attractive strategy to safely enhance the efficacy of gene therapy for HB.

Publication types

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

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Antibodies / immunology
  • Dependovirus / genetics
  • Dogs
  • Factor IX / genetics*
  • Factor IX / immunology
  • Genetic Therapy / methods*
  • Genetic Vectors / genetics
  • Hemophilia B / genetics
  • Hemophilia B / immunology
  • Hemophilia B / therapy*
  • Hemorrhage / genetics
  • Humans
  • Male
  • Muscles / immunology
  • Muscles / metabolism
  • Mutation*
  • Risk Factors
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism
  • Time Factors
  • Treatment Outcome

Substances

  • Antibodies
  • Factor IX