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Gene therapy for glycogen storage diseases.

Publication ,  Journal Article
Kishnani, PS; Sun, B; Koeberl, DD
Published in: Hum Mol Genet
October 1, 2019

The focus of this review is the development of gene therapy for glycogen storage diseases (GSDs). GSD results from the deficiency of specific enzymes involved in the storage and retrieval of glucose in the body. Broadly, GSDs can be divided into types that affect liver or muscle or both tissues. For example, glucose-6-phosphatase (G6Pase) deficiency in GSD type Ia (GSD Ia) affects primarily the liver and kidney, while acid α-glucosidase (GAA) deficiency in GSD II causes primarily muscle disease. The lack of specific therapy for the GSDs has driven efforts to develop new therapies for these conditions. Gene therapy needs to replace deficient enzymes in target tissues, which has guided the planning of gene therapy experiments. Gene therapy with adeno-associated virus (AAV) vectors has demonstrated appropriate tropism for target tissues, including the liver, heart and skeletal muscle in animal models for GSD. AAV vectors transduced liver and kidney in GSD Ia and striated muscle in GSD II mice to replace the deficient enzyme in each disease. Gene therapy has been advanced to early phase clinical trials for the replacement of G6Pase in GSD Ia and GAA in GSD II (Pompe disease). Other GSDs have been treated in proof-of-concept studies, including GSD III, IV and V. The future of gene therapy appears promising for the GSDs, promising to provide more efficacious therapy for these disorders in the foreseeable future.

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Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

October 1, 2019

Volume

28

Issue

R1

Start / End Page

R31 / R41

Location

England

Related Subject Headings

  • Treatment Outcome
  • Transgenes
  • Transduction, Genetic
  • Standard of Care
  • Organ Specificity
  • Liver
  • Immunomodulation
  • Humans
  • Glycogen Storage Disease
  • Genetics & Heredity
 

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Kishnani, P. S., Sun, B., & Koeberl, D. D. (2019). Gene therapy for glycogen storage diseases. Hum Mol Genet, 28(R1), R31–R41. https://doi.org/10.1093/hmg/ddz133
Kishnani, Priya S., Baodong Sun, and Dwight D. Koeberl. “Gene therapy for glycogen storage diseases.Hum Mol Genet 28, no. R1 (October 1, 2019): R31–41. https://doi.org/10.1093/hmg/ddz133.
Kishnani PS, Sun B, Koeberl DD. Gene therapy for glycogen storage diseases. Hum Mol Genet. 2019 Oct 1;28(R1):R31–41.
Kishnani, Priya S., et al. “Gene therapy for glycogen storage diseases.Hum Mol Genet, vol. 28, no. R1, Oct. 2019, pp. R31–41. Pubmed, doi:10.1093/hmg/ddz133.
Kishnani PS, Sun B, Koeberl DD. Gene therapy for glycogen storage diseases. Hum Mol Genet. 2019 Oct 1;28(R1):R31–R41.
Journal cover image

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

October 1, 2019

Volume

28

Issue

R1

Start / End Page

R31 / R41

Location

England

Related Subject Headings

  • Treatment Outcome
  • Transgenes
  • Transduction, Genetic
  • Standard of Care
  • Organ Specificity
  • Liver
  • Immunomodulation
  • Humans
  • Glycogen Storage Disease
  • Genetics & Heredity