Enzyme-replacement therapy with recombinant human GAA (rhGAA) has been a standard treatment for Pompe's disease since it was approved in 2006, they noted.

Both CRIM-positive and CRIM-negative patients with infantile-onset Pompe’s disease who were receiving enzyme-replacement therapy were reported to have anti-GAA IgG. 30-32 A negative immune ...

Late-onset Pompe disease is a rare, debilitating, and life-threatening lysosomal disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA).

Recently, pharmacological chaperone therapy for Pompe disease with small molecules such as imino sugars has attracted interest. But mutant acid α-glucosidase (GAA) species responsive to imino ...

Pompe is caused by mutations to the gene that codes for acid alpha glucosidase (GAA), an enzyme needed for breaking down glycogen in muscles.

Lysosomal storage diseases (LSDs) are rare genetic disorders caused by lack of enzymes. Learn how these rare genetic conditions impact health and development.

In cultured Pompe disease fibroblasts and in Pompe (GAA-deficient) mice, VAL-1221 was found to reduce lysosomal glycogen accumulation as effectively as current enzyme replacement therapies, and ...

3.1 Pompe disease is a rare, genetic, chronic and progressive metabolic disease, resulting in severe disability and a reduced life expectancy. Pompe disease is caused by mutations in the gene that ...