Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II

Mol Ther. 2005 Jan;11(1):57-65. doi: 10.1016/j.ymthe.2004.10.004.

Abstract

Glycogen storage disease type II (GSD-II; Pompe disease) causes death in infancy from cardiorespiratory failure. The underlying deficiency of acid alpha-glucosidase (GAA; acid maltase) can be corrected by liver-targeted gene therapy in GSD-II, if secretion of GAA is accompanied by receptor-mediated uptake in cardiac and skeletal muscle. An adeno-associated virus (AAV) vector encoding human (h) GAA was pseudotyped as AAV8 (AAV2/8) and injected intravenously into immunodeficient GSD-II mice. High levels of hGAA were maintained in plasma for 24 weeks following AAV2/8 vector administration. A marked increase in vector copy number in the liver was demonstrated for the AAV2/8 vector compared to the analogous AAV2/2 vector. GAA deficiency in the heart and skeletal muscle was corrected with the AAV2/8 vector in male GSD-II mice, consistent with receptor-mediated uptake of hGAA. Male GSD-II mice demonstrated complete correction of glycogen storage in heart and diaphragm with the AAV2/8 vector, while female GSD-II mice had correction only in the heart. A biomarker for GSD-II was reduced in both sexes following AAV2/8 vector administration. Therefore, GAA production with an AAV2/8 vector in a depot organ, the liver, generated evidence for efficacious gene therapy in a mouse model for GSD-II.

Publication types

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

MeSH terms

  • Animals
  • Cell Line
  • Dependovirus / genetics*
  • Female
  • Gene Expression Regulation
  • Genetic Therapy / instrumentation
  • Genetic Therapy / methods
  • Genetic Vectors / genetics*
  • Glucan 1,4-alpha-Glucosidase / administration & dosage
  • Glucan 1,4-alpha-Glucosidase / genetics
  • Glucan 1,4-alpha-Glucosidase / metabolism
  • Glucose / chemistry
  • Glucose / metabolism
  • Glycogen Storage Disease Type II / enzymology
  • Glycogen Storage Disease Type II / genetics*
  • Glycogen Storage Disease Type II / therapy*
  • Humans
  • Male
  • Mice
  • Mice, Knockout
  • Motor Activity
  • Sex Characteristics
  • alpha-Glucosidases

Substances

  • alpha-Glucosidases
  • Glucan 1,4-alpha-Glucosidase
  • Glucose