Background: We have developed an adenovirus-based construct containing a human acid α-glucosidase (GAA) cDNA sequence under the control of CMV promoter. Replication-deficient adenovirus (AdCMV-GAA) was generated by homologous recombination in 293 cells.

Cells: Fibroblasts and skeletal muscle cells from patients with infantile glycogenosis type II.

Interventions: Cultured cells were infected with the recombinant adenovirus.

Results: Fibroblats expressing the recombinant GAA had an enzyme activity on the glycogen reaching 240% of the normal. The recombinant human GAA was secreted into the culture medium up to 175 times more than control fibroblasts. It was taken up efficiently by cultured cells. The GAA encoded by the adenovirus vector was correctly transported and processed into the lysosomes. Degradation of glycogen was observed in muscle cells after infection with AdCMV-GAA.

Conclusion: Efficient adenovirus vector is now avaliable to investigate the feasibility of GAA gene transfer In vivo.