Skip to main content
Journal cover image

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

Publication ,  Journal Article
Koeberl, DD
Published in: J Inherit Metab Dis
July 2012

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.

Duke Scholars

Published In

J Inherit Metab Dis

DOI

EISSN

1573-2665

Publication Date

July 2012

Volume

35

Issue

4

Start / End Page

671 / 678

Location

United States

Related Subject Headings

  • Humans
  • Glycogen Storage Disease Type I
  • Genetics & Heredity
  • Genetic Vectors
  • Genetic Therapy
  • Dependovirus
  • Animals
  • 3202 Clinical sciences
  • 3105 Genetics
  • 1103 Clinical Sciences
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Koeberl, D. D. (2012). In search of proof-of-concept: gene therapy for glycogen storage disease type Ia. J Inherit Metab Dis, 35(4), 671–678. https://doi.org/10.1007/s10545-012-9454-5
Koeberl, Dwight D. “In search of proof-of-concept: gene therapy for glycogen storage disease type Ia.J Inherit Metab Dis 35, no. 4 (July 2012): 671–78. https://doi.org/10.1007/s10545-012-9454-5.
Koeberl DD. In search of proof-of-concept: gene therapy for glycogen storage disease type Ia. J Inherit Metab Dis. 2012 Jul;35(4):671–8.
Koeberl, Dwight D. “In search of proof-of-concept: gene therapy for glycogen storage disease type Ia.J Inherit Metab Dis, vol. 35, no. 4, July 2012, pp. 671–78. Pubmed, doi:10.1007/s10545-012-9454-5.
Koeberl DD. In search of proof-of-concept: gene therapy for glycogen storage disease type Ia. J Inherit Metab Dis. 2012 Jul;35(4):671–678.
Journal cover image

Published In

J Inherit Metab Dis

DOI

EISSN

1573-2665

Publication Date

July 2012

Volume

35

Issue

4

Start / End Page

671 / 678

Location

United States

Related Subject Headings

  • Humans
  • Glycogen Storage Disease Type I
  • Genetics & Heredity
  • Genetic Vectors
  • Genetic Therapy
  • Dependovirus
  • Animals
  • 3202 Clinical sciences
  • 3105 Genetics
  • 1103 Clinical Sciences