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Pompe Disease (AT2220)
AT2220 (duvoglostat HCl) is a novel, orally administered
pharmacological chaperone owned exclusively by Amicus. AT2220 is in clinical development
for co-administration with ERT for Pompe disease,
an inherited lysosomal storage disorder caused by deficiency of an enzyme called acid α-glucosidase (GAA). Reduced or absent levels of GAA lead to the accumulation of the substrate glycogen in the lysosomes of muscles and other tissues. Progressive accumulation of glycogen is believed to lead to the symptoms of Pompe disease, including muscle weakness and respiratory insufficiency. ERT with recombinant α-glucosidase is the first and only treatment approved for Pompe disease. However, ERT is not a cure and has several potential limitations.
Published preclinical data1 suggest that AT2220 in combination with ERT may improve enzyme activity, reduce glycogen accumulation, and potentially mitigate ERT-related immunogenicity in patients with Pompe disease. In GAA knock-out mouse models of Pompe disease, AT2220 co-administered with ERT increased the level of active enzyme in plasma and uptake into disease-relevant tissues, including skeletal muscle. This increased enzyme activity corresponded with greater reductions in glycogen, compared to ERT alone.
Preclinical results to date also suggest that AT2220-ERT co-administration may mitigate
ERT-induced immunogenicity by stabilizing the enzyme in its properly folded and
active form. Immune responses occur in a majority of Pompe patients receiving alglucosidase
and may limit treatment outcomes with ERT.
Amicus is currently investigating AT2220 co-administered with ERT in a Phase 2 study
010) in individuals with Pompe disease. For more information about this study please
In parallel with Study 010, Amicus is evaluating ERT-related immunogenicity in Pompe
disease in preclinical studies supported by a grant from the Muscular Dystrophy
The U.S. Food and Drug Administration's Office of Orphan Products Development has
granted orphan drug designation for the active ingredient in AT2220 in the United
Pompe disease is an inherited lysosomal storage disorder caused by deficiency of an enzyme called acid α-glucosidase (GAA) that leads to progressive muscle weakness and respiratory insufficiency.
To learn more about Pompe disease, click here.