Amicus Therapeutics announced that the Food and Drug Administration (FDA) has granted orphan drug designation to ATB200/AT2221 for the potential treatment of Pompe disease.

Pompe disease is an inherited lysosomal storage disorder due to an acid alpha-glucosidase (GAA) deficiency. All forms of the disease are characterized by severe muscle weakness that worsens over time. The drug candidate combines ATB200, a unique recombinant human acid alpha-glucosidase (rhGAA) enzyme with optimized carbohydrate structures, and AT2221, a pharmacological chaperone.

Related Articles

The safety, tolerability, pharmacokinetics and efficacy of the treatment is currently being investigated in a Phase 1/2 open-label study (ATB200-02) of 20 Pompe disease patients. Patients will be split into 3 cohorts; an ambulatory ERT-switch group, a non-ambulatory ERT-switch, and an ERT-naïve group. 

Initial results that included 6-month functional outcomes on motor and pulmonary function were previously reported in the 10 initial patents. The remaining data will be presented at the 22nd International Congress of the World Muscle Society. 

For more information visit