codon-optimized GAA

Codon-optimized GAA is a **gene therapy product utilizing a version of the human acid alpha-glucosidase (GAA) gene that has been engineered for enhanced expression in human cells by optimizing its codon usage**[1][2][3][4][7][8][9]. This engineered gene is typically delivered with an adeno-associated virus (AAV) vector and is under active investigation for the treatment of **Pompe disease (glycogen storage disease type II)**. Pompe disease is caused by loss-of-function mutations in the GAA gene, resulting in deficient enzymatic activity, lysosomal glycogen accumulation, and progressive muscle dysfunction. By optimizing the codon sequence, the therapy aims to maximize translation efficiency and therapeutic GAA enzyme production, improving glycogen breakdown in affected tissues. Clinical studies have used both liver- and muscle-targeted AAV vectors expressing codon-optimized GAA for systemic or local therapeutic effect, and outcomes focus on safety, enzyme activity, glycogen reduction, muscle function, and respiratory capacity[1][2][4][7][8][10].

Other names

acid alpha-glucosidase (codon-optimized)GAAcocodon-optimized acid alpha-glucosidase