CRANBURY, N.J., March 13 Amicus Therapeutics, abiopharmaceutical company developing small-molecule, orally administeredpharmacological chaperones for the treatment of human genetic diseases,announced today that the Company will present positive results from an ex vivoresponse study and three Phase 1 studies of AT2220 (1-deoxynojirimycin HCl),Amicus' compound in development for the treatment of Pompe disease, at theAmerican College of Medical Genetics (ACMG) Annual Meeting from March 12-16 inPhoenix, AZ. The results of the ex vivo response study along with thepreviously reported results of the Phase 1 studies support moving into Phase 2trials in the first half of 2008.
Ex Vivo Response Study data
Interim data will be presented from an ex vivo response study designed totest the effect of AT2220 on various Pompe mutations. Blood and skin sampleswere collected from 30 Pompe patients (26 adults, 3 juveniles and 1 infant)with a variety of different mutations in acid alpha-glucosidase (GAA), thetarget enzyme in Pompe disease. Cells derived from these samples were thentested to determine whether treatment with AT2220 caused an increase in thelevel of GAA. Of the 26 patients with available data, 24 had cells thatshowed a dose responsive increase in GAA levels, including 22 patients who hadat least 1 copy of the common splice site mutation IVS1-13T>G. It has beenreported that more than 80% of Caucasian adult Pompe patients have at least 1copy of this common splicing mutation.
Phase 1 AT2220 data
A total of 72 healthy volunteers were treated in three double-blind,placebo-controlled, dose escalation Phase 1 studies designed to evaluate thesafety, tolerability and pharmacokinetics of AT2220. Across all threestudies, AT2220 was shown to be generally safe and well tolerated at alldoses. There were no drug-related serious adverse events and no adverseevents were considered to be definitely or probably related to studytreatment. In the multiple ascending dose studies all possibly-relatedadverse events were mild in severity and resolved spontaneously.
"We're very encouraged with the results of the ex vivo response study thatsuggest a majority of Pompe patients may be treatable with our pharmacologicalchaperone AT2220," said John F. Crowley, President and CEO of AmicusTherapeutics. "Based on these data and the safety data from the Phase 1studies, we look forward to commencing a Phase 2 clinical trial in Pompepatients the first half of this year."
As of November 2007, AT2220 is being developed in partnership with ShireHuman Genetic Therapies (HGT), a business unit of Shire plc, which is focusedon genetic diseases.
About Pompe Disease
Pompe disease affects an estimated 5,000-10,000 patients worldwide and isclinically heterogeneous in the age of onset, the extent of organ involvement,and the rate of progression. The early onset form of the disease is the mostsevere, progresses most rapidly, and is characterized by musculoskeletal,pulmonary, gastrointestinal, and cardiac symptoms that usually lead to deathfrom cardio-respiratory failure between 1 and 2 years of age. The late onsetform of the disease begins between childhood and adulthood and has a slowerrate of progression that is characterized by musculoskeletal and pulmonarysymptoms that usually lead to progressive weakness and respiratoryinsufficiency. A high majority of patients have the late onset form of thedisease. The U.S. Food and Drug Administration's Office of Orphan ProductsDevelopment has granted orphan drug designation for the active ingredient inAT2220 in the United States.
About Amicus Therapeutics
Amicus Therapeutics is a biopharmaceutical company developing novel, oraltherapeutics known as pharmacological chaperones for the treatment of a rangeof human genetic diseases. Pharmacological chaperone technology involves theuse of s