Pompe Disease | Amicus Therapeutics

Pompe Disease

We are leveraging our investigational biologics and Chaperone-Advanced Replacement Therapy (CHART®) to develop AT-GAA, an investigational therapy that consists of recombinant human acid alpha-glucosidase (rhGAA) enzyme with an optimized carbohydrate structure (designated ATB200), administered with a small molecule pharmacological chaperone (designated AT2221).

  • Pompe disease is an inherited Lysosomal Storage Disorder (LSD) caused by a deficiency of the enzyme acid alpha-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.

Development Status

Amicus has initiated a clinical study to investigate the safety and pharmacokinetics of AT-GAA as a fixed-dose combination therapy in patients with Pompe disease.

In 2013, Amicus completed a Phase 2 safety and pharmacokinetics study, Study 010, that investigated single ascending oral doses of a pharmacological chaperone co-administered with alglucosidase alfa in patients with Pompe disease. Each patient received one infusion of ERT alone then a single oral dose of the pharmacological chaperone just prior to the next ERT infusion.

ATB200/AT2221: Phase 1/2 Safety Study (ATB200-02 Study)

More information: www.clinicaltrials.gov: NCT02675465