Report Summary

Preclinical Study of Adeno-Associated Virus Mediated Gene Therapy for Pompe Disease by direct injection into the diaphragm of New Zealand White Rabbits (Study ID # GSDII-002)

Study Summary

Overall Study Design 
Glycogen Storage Disease type II GSDII is an autosomal recessive lysosomal storage disease due to acid 
alpha-glucosidase GAA deficiency The disease is characterized by lysosomal accumulation of glycogen in many tissues 
Glycogen accumulation causes muscle dysfunction and degeneration resulting in the profound muscle weakness 
characteristic of the disease and eventually death due to cardiac or respiratory failure 
The objective of this study was to determine the potential toxicity of adeno-associated virus serotype 1 expressing the 
human acid alpha-Glucosidase hGAA driven by a cytomegalovirus CMV promoter rAAV1-p432-hGAA following 
intradiaphragmatic injection in New Zealand White rabbits 
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