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Technology ID
TAB-3939

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

E-Numbers
E-039-2015-0
Lead Inventors
Chou, Janice
Applications
Therapeutics
Therapeutic Areas
Nephrology
Development Stages
Pre-clinical (in vivo)
Lead IC
NICHD
ICs
NICHD

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.

Competitive Advantages:

  • Protein coding sequence modified for enhanced enzymatic activity.
  • Codon optimized for increased enzyme expression in target organs.

Commercial Applications:

  • Gene therapy vector for the treatment of GSD-Ia

Request More Info

Licensing Contacts
Gunas, Heather
gunash@mail.nih.gov

Related Inventions

  • E-552-2013           TAB-4242
    Improved Gene Therapy Vectors for the Treatment of Glycogen Storage Disease Type Ia (GSD-1a)

Patents

  • US
    Provisional (PRV) 62/096,400
    Filed on 2014-12-23
    Status: Abandoned
  • Patent Cooperation Treaty
    (PCT) PCT/US2015/067338
    Filed on 2015-12-22
    Status: Expired
  • Canada
    National Stage 2972038
    Filed on 2015-12-22
    Status: Issued
  • China
    National Stage 201580076462.4
    Filed on 2015-12-22
    Status: Issued
  • European Patent
    National Stage 15830932.8
    Filed on 2015-12-22
    Status: Issued
  • Israel
    National Stage 253103
    Filed on 2017-06-22
    Status: Issued
  • Japan
    National Stage 2017-533845
    Filed on 2017-06-22
    Status: Issued
  • US Patent 10,415,044
    Filed on 2017-06-22
    Status: Issued
  • US Patent 11,535,870
    Filed on 2019-07-30
    Status: Issued
  • Japan
    Divisional (DIV) 2019-220144
    Filed on 2015-12-22
    Status: Abandoned
  • Belgium
    European patent (EP) 15830932.8
    Filed on 2015-12-22
    Status: Issued
  • Switzerland
    European patent (EP) 15830932.8
    Filed on 2015-12-22
    Status: Issued
  • Germany
    European patent (EP) 15830932.8
    Filed on 2015-12-22
    Status: Issued
  • Spain
    European patent (EP) 15830932.8
    Filed on 2015-12-22
    Status: Issued
  • France
    European patent (EP) 15830932.8
    Filed on 2015-12-22
    Status: Issued
  • United Kingdom
    European patent (EP) 15830932.8
    Filed on 2015-12-22
    Status: Issued
  • Italy
    European patent (EP) 15830932.8
    Filed on 2015-12-22
    Status: Issued
  • The Netherlands
    European patent (EP) 15830932.8
    Filed on 2015-12-22
    Status: Issued
  • Sweden
    European patent (EP) 15830932.8
    Filed on 2015-12-22
    Status: Issued
  • US
    Continuation (CON) 18/058,457
    Filed on 2022-11-23
    Status: Pending

Publications

Collaborations

  • Licensing