Study 010 DesignStudy 010 is a Phase 2 open-label, multi-center study to evaluate the safety and PK effects of four increasing oral doses of AT2220 (50 mg, 100 mg, 250 mg, or 600 mg) co-administered with ERT (Myozyme ®/Lumizyme ®) versus ERT alone in individuals with Pompe disease. The study has completed enrollment of male and female patients who have been on a stable dose and regimen of ERT for at least three months. All patients are given a regularly scheduled ERT infusion. One hour prior to the initiation of the next ERT infusion, subjects receive a single oral dose of AT2220. Plasma rhGAA activity and protein levels are evaluated during each infusion. Each patient undergoes muscle biopsies three or seven days after each infusion to measure tissue GAA enzyme activity with and without the chaperone, as well as to measure the level of AT2220 in the muscle. More information about Study 010 can be obtained by visiting www.clinicaltrials.gov : NCT1380743 or www.pompestudy.com . About Amicus Therapeutics Amicus Therapeutics (Nasdaq:FOLD) is a biopharmaceutical company at the forefront of developing therapies for rare diseases. The Company is developing orally-administered, small molecule drugs called pharmacological chaperones, a novel, first-in-class approach to treating a broad range of human genetic diseases. Amicus' late-stage programs for lysosomal storage disorders include migalastat HCl monotherapy in Phase 3 for Fabry disease; migalastat HCl co-administered with enzyme replacement therapy (ERT) in Phase 2 for Fabry disease; and AT2220 co-administered with ERT in Phase 2 for Pompe disease. About AT2220 for Pompe Disease AT2220 is an investigational, orally-administered pharmacological chaperone owned exclusively by Amicus. The Company is currently investigating AT2220 (duvoglustat HCl) co-administered with the ERT alglucosidase alfa (Myozyme/Lumizyme) in a Phase 2 study ( Study 010) in individuals with Pompe disease. In published preclinical studies, AT2220-ERT co-administration resulted in significant increases in muscle rhGAA levels and decreases in glycogen levels in a mouse model of Pompe disease. Preclinical results to date also suggest that AT2220-ERT co-administration may mitigate ERT-induced immunogenicity by stabilizing the enzyme in its properly folded and active form. Pompe disease is a lysosomal storage disease characterized by progressive skeletal muscle weakness and respiratory insufficiency. It is caused by a deficiency in GAA activity, which leads to accumulation of glycogen in tissues affected by the disease (primarily muscle). Pompe disease affects an estimated 5,000 to 10,000 individuals worldwide and is clinically heterogeneous in the age of onset, the extent of organ involvement, and the rate of progression.
- An Ongoing Phase 2a Study to Investigate the Effect of AT2220 (Duvoglustat HCl) on the Pharmacokinetics of Acid α-Glucosidase in Subjects with Pompe Disease: Preliminary Results – P. Kishnani, M. Tarnopolsky, K. Sivakumar, B. Byrne, O. Goker-Alpan, K. Guter, M. Pervaiz, M. Dasouki, T. Levine, M. Roberts, P. Laforet, F. K. Johnson, S. Sitaraman, R. Lazauskas, R. Khanna, J. Flanagan, E.R. Sjoberg, K. J. Valenzano, D. J. Lockhart, and P. Boudes
- Khanna R, et al., The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease., PLoS ONE (2012) 7(7): e40776. doi:10.1371/journal.pone.0040776.
- Lacana E, et al., The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease. , Am J Med Genet C Semin Med Genet. 2012 160C:30-39
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