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Pompe Disease

Pompe disease is 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 morbidity and mortality associated with Pompe disease, including muscle weakness and respiratory insufficiency. Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA, alglucosidase alfa) is the first and only treatment approved for Pompe disease. However, ERT is not a cure but instead is a chronic treatment that has several potential limitations, including the occurrence of immune responses in a majority of Pompe patients receiving rhGAA infusions.1 For more information about Pompe disease, please click here.

Amicus is leveraging its biologics and Chaperone-Advanced Replacement Therapy (CHART™) platforms to develop a next-generation ERT for Pompe disease. This ERT consists of an rhGAA enzyme (designated ATB200) that is uniquely engineered to contain optimized carbohydrate structures that enhance tissue uptake. ATB200 is administered in combination with a pharmacological chaperone to improve its stability and prevent loss of enzyme activity during administration so that more of the active therapeutic drug is delivered to key muscles.

Development Status
Amicus is advancing towards the clinic to investigate ATB200 in combination with a pharmacological chaperone. In preclinical studies, ATB200 demonstrated greater tissue enzyme levels and better substrate reduction compared to the currently approved ERT for Pompe disease (alglucosidase alfa), which were further improved with the addition of a chaperone.2 Clinical studies3,4 of pharmacological chaperones in combination with currently marketed ERTs have established initial human proof-of-concept that a chaperone can stabilize enzyme activity and potentially improve ERT tolerability. Taken together these results support the further investigation of a next-generation ERT that combines ATB200 with a pharmacological chaperone for Pompe disease.


1. Lacana E, et al., Am J Med Genet C Semin Med Genet. 2012 160C:30-39

2. Gotschall, et al.,WORLDSymposium 2015

3. Kishnani P, et al., LDN WORLD 2013


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.

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