Abstract
Prior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, which in the case of glycogen storage disease (GSD) type II (GSD II; Pompe disease) remained essentially palliative. Despite improved survival and growth, long-term complications of GSD type I (GSD I) have not responded to dietary therapy with uncooked cornstarch or continuous gastric feeding. The recognized significant risk of renal disease and liver malignancy in GSD I has prompted efforts towards curative therapy, including organ transplantation, in those deemed at risk. Results of clinical trials in infantile Pompe disease with alglucosidase alfa (Myozyme) showed prolonged survival reversal of cardiomyopathy, and motor gains. This resulted in broad label approval of Myozyme for Pompe disease in 2006. Furthermore, the development of experimental therapies, such as adeno-associated virus (AAV) vector-mediated gene therapy, holds promise for the availability of curative therapy in GSD I and GSD II/Pompe disease in the future.
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Abbreviations
- AAV:
-
adeno-associated virus
- AFP:
-
alpha-fetoprotein
- CRIM:
-
cross-reacting immune material negative
- ERT:
-
enzyme replacement therapy
- G6Pase:
-
glucose-6-phosphatase
- G6Pase-KO:
-
G6Pase knockout
- GAA-KO:
-
GAA knockout
- Glc4 :
-
Glcα1-6Glcα1-4Glcα1-4Glc
- GSD I:
-
glycogen storage disease type I
- GSD II:
-
glycogen storage disease type II
- GSD:
-
glycogen storage disease
- HCC:
-
hepatocellular carcinoma
- rhGAA:
-
recombinant human acid alpha-glucosidase
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Communicating editor: Verena Peters
Competing interests: D. D. Koeberl, P. Kishnani and Y. T. Chen have received research/grant support from Genzyme Corporation. P. Kishnani is a member of the Pompe Disease Advisory Board for Genzyme Corporation. Y.T. Chen has served as a consultant for Genzyme. The clinical trials with rhGAA were supported by a grant from Genzyme Corporation at the various sites where patients were treated. rhGAA, in the form of Genzyme’s product, Myozyme, has now been approved by the US FDA and the European Union as therapy for Pompe disease. Duke University and the developers of the method of treatment and predecessors of the cell lines used to generate the enzyme (rhGAA) used in this clinical trial may benefit financially pursuant to the University’s Policy on Inventions, Patents and Technology Transfer, even if those cell lines are not used in the commercialized therapy.
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Koeberl, D.D., Kishnani, P.S. & Chen, Y.T. Glycogen storage disease types I and II: Treatment updates. J Inherit Metab Dis 30, 159–164 (2007). https://doi.org/10.1007/s10545-007-0519-9
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DOI: https://doi.org/10.1007/s10545-007-0519-9