In search of proof-of-concept: gene therapy for glycogen storage disease type Ia.

Journal Article (Journal Article)

The emergence of life threatening long-term complications in glycogen storage disease type Ia (GSD-Ia) has emphasized the need for new therapies, such as gene therapy, which could achieve biochemical correction of glucose-6-phosphatase deficiency and reverse clinical involvement. We have developed gene therapy with a novel adeno-associated virus (AAV) vector that: 1) prevented mortality and corrected glycogen storage in the liver, 2) corrected hypoglycemia during fasting, and 3) achieved efficacy with a low number of vector particles in G6Pase-deficient mice and dogs. However, the gradual loss of transgene expression from episomal AAV vector genomes eventually necessitated the administration of a different pseudotype of the AAV vector to sustain dogs with GSD-Ia. Further preclinical development of AAV vector-mediated gene therapy is therefore warranted in GSD-Ia.

Full Text

Duke Authors

Cited Authors

  • Koeberl, DD

Published Date

  • July 2012

Published In

Volume / Issue

  • 35 / 4

Start / End Page

  • 671 - 678

PubMed ID

  • 22310927

Electronic International Standard Serial Number (EISSN)

  • 1573-2665

Digital Object Identifier (DOI)

  • 10.1007/s10545-012-9454-5


  • eng

Conference Location

  • United States