Pompe Disease

We are leveraging our biologics and Chaperone-Advanced Replacement Therapy (CHARTâ„¢) to develop ATB200/AT2221, a novel treatment paradigm that consists of a uniquely engineered 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

  • 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.

For more information about Pompe disease, download our Pompe disease infographic.

Development Status

We are conducting a clinical study (ATB200-02) to investigate the safety and pharmacokinetics of ATB200/AT2221 as a co-administered therapy in patients with Pompe disease.

In 2013, we 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.

To learn more about enrolling in our Phase 1/2 study, please visit our clinical trials.