Improved Gene Therapy Vectors for the Treatment of Glycogen Storage Disease Type Ia (GSD-1a)

E-Numbers

E-552-2013-0

Lead Inventors

Chou, Janice

Co-Inventors

Byrne, Barry

Applications

Therapeutics

Therapeutic Areas

Nephrology

Endocrinology

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 Institute for Child Health and Human Development developed adeno-associated viral (AAV) vectors for the treatment of glycogen storage disease type Ia (GSD-Ia).This technology describes new AAV vectors for the delivery of corrective genes that express modified human G6Pase-alpha proteins, directed by the tissue-specific human G6PC promoter/enhancer.

This technology can be independently licensed for development as a therapy. The NICHD inventor is also interested in the mechanisms by which GSD-1a may lead to hepatic malignancy and a collaboration project may be considered.

Competitive Advantages:

Protein coding sequences are modified from the wildtype human sequence for enhanced enzymatic activity.

Commercial Applications:

Gene therapy vector for the delivery of a corrective gene to treat of GSD-Ia.
Useful in development of a combined pharmaceutical plus gene therapy approach to treat adult GSD-1a patients at risk of hepatocellular carcinoma.

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Licensing Contacts

Hubbs, Alan
hubbsa@mail.nih.gov

Patents

US Patent 10,113,183
Filed on 2017-04-21
Status: Issued
US
Provisional (PRV) 61/908,861
Filed on 2013-11-26
Status: Abandoned
Patent Cooperation Treaty
(PCT) PCT/US2014/067415
Filed on 2014-11-25
Status: Expired
Australia
National Stage 2014354839
Filed on 2014-11-25
Status: Issued
Brazil
National Stage BR112016011997-5
Filed on 2014-11-25
Status: Issued
Canada
National Stage 2930872
Filed on 2014-11-25
Status: Issued
China
National Stage 201480074046.6
Filed on 2014-11-25
Status: Issued
Colombia
National Stage 16162610
Filed on 2016-06-21
Status: Abandoned
European Patent
National Stage 14812375.5
Filed on 2014-11-25
Status: Issued
Israel
National Stage 245659
Filed on 2016-05-16
Status: Issued
Japan
National Stage 2016-554828
Filed on 2014-11-25
Status: Issued
Mexico
National Stage MX/a/2016/006774
Filed on 2014-11-25
Status: Issued
US Patent 9,644,216
Filed on 2016-05-24
Status: Issued
European Patent
Divisional (DIV) 18186594.0
Filed on 2018-07-31
Status: Issued
Belgium
European patent (EP) 14812375.5
Filed on 2014-11-25
Status: Issued
Switzerland
European patent (EP) 14812375.5
Filed on 2014-11-25
Status: Issued
Germany
European patent (EP) 14812375.5
Filed on 2014-11-25
Status: Issued
Spain
European patent (EP) 14812375.5
Filed on 2014-11-25
Status: Issued
France
European patent (EP) 14812375.5
Filed on 2014-11-25
Status: Issued
United Kingdom
European patent (EP) 14812375.5
Filed on 2014-11-25
Status: Issued
Italy
European patent (EP) 14812375.5
Filed on 2014-11-25
Status: Issued
The Netherlands
European patent (EP) 14812375.5
Filed on 2014-11-25
Status: Issued
Sweden
European patent (EP) 14812375.5
Filed on 2014-11-25
Status: Issued
US Patent 11,060,110
Filed on 2018-10-01
Status: Issued
Germany
European patent (EP) 18186594.0
Filed on 2018-07-31
Status: Issued
France
European patent (EP) 18186594.0
Filed on 2018-07-31
Status: Issued
United Kingdom
European patent (EP) 18186594.0
Filed on 2018-07-31
Status: Issued

Publications

Collaborations

Licensing
Collaboration

Date Published

2021-04-30