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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.
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.
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.