Optimized Gene Therapy Vector for the Treatment of Glycogen Storage Disease Type Ia

NIH researchers have developed an adeno-associated viral (AAV) vector for the treatment of glycogen storage disease type Ia (GSD-Ia). 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). 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.

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.

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

Development Stage:
In vivo data available (animal)

Related Invention(s):


Janice Chou (NICHD)  ➽ more inventions...

Intellectual Property:
US Application No. 62/096,400
PCT Application No. PCT/US2015/067338
US Application No. 15/538,852

Lee YM et al. PMID 22422504
Lee YM, et al. PMID 23856420

Collaboration Opportunity:

The National Institute of Child Health and Human Development is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize gene therapy vectors for the treatment of glycogen storage disease type Ia. For collaboration opportunities, please contact Joseph M. Conrad, III, Ph.D., J.D. at jmconrad@mail.nih.gov. To view the NICHD co-development announcement, click here.

Licensing Contact:
Surekha Vathyam, Ph.D.
Email: vathyams@mail.nih.gov
Phone: 240-276-6865

OTT Reference No: E-039-2015/0
Updated: Apr 26, 2017