AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia

Mol Ther. 2008 Apr;16(4):665-72. doi: 10.1038/mt.2008.15. Epub 2008 Mar 11.

Abstract

Glycogen storage disease type Ia (GSD-Ia) profoundly impairs glucose release by the liver due to glucose-6-phosphatase (G6Pase) deficiency. An adeno-associated virus (AAV) containing a small human G6Pase transgene was pseudotyped with AAV8 (AAV2/8) to optimize liver tropism. Survival was prolonged in 2-week-old G6Pase (-/-) mice by 600-fold fewer AAV2/8 vector particles (vp), in comparison to previous experiments involving this model (2 x 10(9) vp; 3 x 10(11) vp/kg). When the vector was pseudotyped with AAV1, survival was prolonged only at a higher dose (3 x 10(13) vp/kg). The AAV2/8 vector uniquely prevented hypoglycemia during fasting and fully corrected liver G6Pase deficiency in GSD-Ia mice and dogs. The AAV2/8 vector has prolonged survival in three GSD-Ia dogs to >11 months, which validated this strategy in the large animal model for GSD-Ia. Urinary biomarkers, including lactate and 3-hydroxybutyrate, were corrected by G6Pase expression solely in the liver. Glycogen accumulation in the liver was reduced almost to the normal level in vector-treated GSD-Ia mice and dogs, as was the hepatocyte growth factor (HGF) in GSD-Ia mice. These preclinical data demonstrated the efficacy of correcting hepatic G6Pase deficiency, and support the further preclinical development of AAV vector-mediated gene therapy for GSD-Ia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Dependovirus / genetics*
  • Disease Models, Animal
  • Dogs
  • Genetic Therapy
  • Genetic Vectors
  • Glucose-6-Phosphatase / biosynthesis
  • Glucose-6-Phosphatase / genetics*
  • Glycogen Storage Disease Type I / enzymology
  • Glycogen Storage Disease Type I / therapy*
  • Humans
  • Hypoglycemia / enzymology
  • Hypoglycemia / therapy*
  • Liver Glycogen / metabolism
  • Mice
  • Mice, Knockout

Substances

  • Liver Glycogen
  • Glucose-6-Phosphatase