The development of gene therapy has advanced to a point where a cure for Pompe disease can be foreseen. Pompe disease (glycogen storage disease type II; acid maltase deficiency) is a devastating myopathy resulting from acid alpha-glucosidase (GAA) deficiency in striated and smooth muscle. Despite the availability of enzyme replacement therapy (ERT) with recombinant human (rh) GAA, many patients have poor outcomes including mortality due to clinically significant anti-GAA antibody response. The limitations of ERT have prompted the preclinical development of gene therapy for Pompe disease. Clinical translation of efficacious gene therapy will greatly advance treatment for Pompe disease by correcting GAA deficiency and suppressing immune responses against rhGAA.

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Research Project--Cooperative Agreements (U01)
Project #
5U01AR071693-02
Application #
9559413
Study Section
Arthritis and Musculoskeletal and Skin Diseases Clinical Trials Review Committee (AMSC)
Program Officer
Cheever, Thomas
Project Start
2017-09-05
Project End
2020-06-30
Budget Start
2018-07-01
Budget End
2019-06-30
Support Year
2
Fiscal Year
2018
Total Cost
Indirect Cost
Name
Duke University
Department
Pediatrics
Type
Schools of Medicine
DUNS #
044387793
City
Durham
State
NC
Country
United States
Zip Code
27705
Bond, J E; Kishnani, P S; Koeberl, D D (2017) Immunomodulatory, liver depot gene therapy for Pompe disease. Cell Immunol :