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

Preclinical Gene Therapy Program

Amicus announced a major collaboration with the Gene Therapy Program in the Perelman School of Medicine at the University of Pennsylvania (Penn) to pursue research and development of novel gene therapies for Pompe disease. This relationship will combine Amicus’ protein engineering and glycobiology expertise with Penn’s adeno associated virus (AAV) gene transfer technologies to develop AAV gene therapies designed for optimal cellular uptake, targeting, dosing, safety and manufacturability.