Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy

Mol Ther. 2013 Jul;21(7):1306-15. doi: 10.1038/mt.2013.86. Epub 2013 May 21.

Abstract

Salutary responses to adeno-associated viral (AAV) gene therapy have been reported in the mouse model of Sandhoff disease (SD), a neurodegenerative lysosomal storage disease caused by deficiency of β-N-acetylhexosaminidase (Hex). While untreated mice reach the humane endpoint by 4.1 months of age, mice treated by a single intracranial injection of vectors expressing human hexosaminidase may live a normal life span of 2 years. When treated with the same therapeutic vectors used in mice, two cats with SD lived to 7.0 and 8.2 months of age, compared with an untreated life span of 4.5 ± 0.5 months (n = 11). Because a pronounced humoral immune response to both the AAV1 vectors and human hexosaminidase was documented, feline cDNAs for the hexosaminidase α- and β-subunits were cloned into AAVrh8 vectors. Cats treated with vectors expressing feline hexosaminidase produced enzymatic activity >75-fold normal at the brain injection site with little evidence of an immune infiltrate. Affected cats treated with feline-specific vectors by bilateral injection of the thalamus lived to 10.4 ± 3.7 months of age (n = 3), or 2.3 times as long as untreated cats. These studies support the therapeutic potential of AAV vectors for SD and underscore the importance of species-specific cDNAs for translational research.

Publication types

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

MeSH terms

  • Animals
  • Cat Diseases / enzymology*
  • Cat Diseases / genetics
  • Cat Diseases / therapy*
  • Cats
  • Dependovirus / genetics
  • Disease Models, Animal
  • Genetic Therapy / methods
  • Genetic Vectors / genetics
  • Sandhoff Disease / enzymology*
  • Sandhoff Disease / genetics
  • Sandhoff Disease / therapy*
  • beta-N-Acetylhexosaminidases / genetics
  • beta-N-Acetylhexosaminidases / metabolism*

Substances

  • beta-N-Acetylhexosaminidases