Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease

Mol Ther. 2010 Feb;18(2):353-60. doi: 10.1038/mt.2009.195. Epub 2009 Aug 18.

Abstract

Infantile Pompe disease progresses to a lethal cardiomyopathy in absence of effective treatment. Enzyme-replacement therapy (ERT) with recombinant human acid alpha-glucosidase (rhGAA) has been effective in most patients with Pompe disease, but efficacy was reduced by high-titer antibody responses. Immunomodulatory gene therapy with a low dose adeno-associated virus (AAV) vector (2 x 10(10) particles) containing a liver-specific regulatory cassette significantly lowered immunoglobin G (IgG), IgG1, and IgE antibodies to GAA in Pompe disease mice, when compared with mock-treated mice (P < 0.05). AAV-LSPhGAApA had the same effect on GAA-antibody production whether it was given prior to, following, or simultaneously with the initial GAA injection. Mice given AAV-LSPhGAApA had significantly less decrease in body temperature (P < 0.001) and lower anaphylactic scores (P < 0.01) following the GAA challenge. Mouse mast cell protease-1 (MMCP-1) followed the pattern associated with hypersensitivity reactions (P < 0.05). Regulatory T cells (Treg) were demonstrated to play a role in the tolerance induced by gene therapy as depletion of Treg led to an increase in GAA-specific IgG (P < 0.001). Treg depleted mice were challenged with GAA and had significantly stronger allergic reactions than mice given gene therapy without subsequent Treg depletion (temperature: P < 0.01; symptoms: P < 0.05). Ubiquitous GAA expression failed to prevent antibody formation. Thus, immunomodulatory gene therapy could provide adjunctive therapy in lysosomal storage disorders treated by enzyme replacement.

Publication types

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

MeSH terms

  • Animals
  • Antibody Formation / genetics
  • Antibody Formation / immunology*
  • Cell Line
  • Dependovirus / genetics
  • Dependovirus / physiology*
  • Enzyme Replacement Therapy / methods
  • Enzyme-Linked Immunosorbent Assay
  • Genetic Therapy / methods*
  • Glycogen Storage Disease Type II / immunology*
  • Glycogen Storage Disease Type II / therapy*
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • alpha-Glucosidases / genetics
  • alpha-Glucosidases / physiology

Substances

  • GAA protein, human
  • alpha-Glucosidases