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Gene Therapy Vector for the Treatment of Glycogen Storage Disease Type Ia (GSD-Ia)

Summary
GSD-Ia is an inherited disorder of metabolism associated with life-threatening hypoglycemia, hepatic malignancy, and renal failure caused by the deficiency of glucose-6-phosphatase-alpha (G6Pase-alpha or G6PC). NICHD seeks parties to license this invention towards commercialization.
NIH Reference Number
E-039-2015
Product Type
Keywords
  • GSD-Ia
  • hypoglycemia
  • hepatic malignancy
  • renal failure
Collaboration Opportunity
This invention is available for licensing.
Contact
Description of Technology

GSD-Ia is an inherited disorder of metabolism associated with life-threatening hypoglycemia, hepatic malignancy, and renal failure caused by the deficiency of glucose-6-phosphatase-alpha (G6Pase-alpha or G6PC). Current therapy, which primarily consists of dietary modification, fails to prevent long-term complications in many patients, including growth failure, gout, pulmonary hypertension, renal dysfunction, osteoporosis, and hepatocellular adenomas (HCA). Gene therapy-based techniques, which directly address the underlying genetic deficiency driving the disorder, offer the prospect of long-term remission in patients with GSD-Ia.

Researchers at the NIH National Insitute for Childhood Health and Diseases have developed an adeno-associated viral (AAV) vector for the treatment of glycogen storage disease type Ia (GSD-Ia).This new AAV vector that expresses human G6Pase-alpha directed by the tissue-specific human G6PC promoter/enhancer incorporates two improvements: 1) it expresses a variant of G6Pase-alpha with enhanced enzymatic activity; 2) it is codon optimized to achieve higher enzyme expression levels and enhanced enzymatic activity.

In vivo data is available.

Potential Commercial Applications
  • Gene therapy vector for the treatment of GSD-Ia
Competitive Advantages
  • Protein coding sequence modified for enhanced enzymatic activity.
  • Codon optimized for increased enzyme expression in target organs.
Development Stage
Publications

Lee YM et al.  [[PMID 22422504]]

Lee YM, et al.  [[PMID 23856420]]

Patent Status
  • U.S. Patent Filed: U.S. Patent Application Number 62/096,400, Filed 23 Dec 2014
Related Technologies
  • E-552-2013
Therapeutic Area
Updated
Friday, March 9, 2018