Gene Therapy 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). 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
Related Inventions
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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 Patent 12,440,580
Filed on 2022-11-23
Status: Issued
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