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Fabry Disease

September 1, 2014

Amicus Therapeutics issued results of a phase III trial of migalastat HCl for the treatment of Fabry disease with amenable mutations. The study compared oral migalastat to standard-of-care enzyme replacement therapies (ERTs) for Fabry disease (Fabrazyme and Replagal). The study enrolled 60 patients (26 males and 34 females) with Fabry disease with amenable mutations in a clinical trial assay who had been treated with ERT for a minimum of 12 months prior to study entry. These patients were randomized 1.5:1 to switch to migalastat (36 patients) or remain on ERT (24 patients) for the primary 18-month treatment period, after which they were eligible to receive migalastat in a 12-month extension phase. Among the 60 patients enrolled, 56 (34 in the migalastat group and 22 in the ERT group) had amenable mutations in a GLP-validated human embryonic kidney (HEK) cell-based in vitro assay (GLP HEK-amenable). Migalastat had a comparable effect to ERT on patients’ kidney function as measured by the change in eGFR and mGFR. Levels of plasma lyso-Gb3, an important biomarker of disease, remained low and stable in patients with amenable mutations who switched from ERT to migalastat. Of 48 patients with GLP HEK-amenable mutations who completed the study, 46 (96%) elected to continue with the 12-month treatment extension and 45 remain on migalastat as their only treatment for Fabry disease. Migalastat was generally safe and well-tolerated.

February 21, 2011

Amicus reported preliminary data from a phase II long-term extension study of Amigal for Fabry Disease. This non-randomized, open-label, uncontrolled, single group extension study initially enrolled 26 subjects with Fabry disease who had completed previous phase II trials. At this time, 15 subjects had been treated with Amigal for more than three years and seven subjects had been treated with migalastat HCl for more than four years. Seventeen subjects are still receiving treatment in the ongoing extension study. Data indicate that estimated glomerular filtration rate (eGFR) has remained stable out to three to four years for all subjects continuing in the extension study. The average annual rate of change in eGFR in subjects identified as responders to Amigal was +1.6 mL/min/1.73m2. Reduced 24-hour urine protein was also observed in multiple subjects identified as responders to Amigal, with a mean 21% and median 34% reduction from baseline.

September 12, 2005

Amicus Therapeutics has announced positive results of a phase I trial of Amigal (migalastat hydrochloride) for the treatment of Fabry disease. Results from the study indicated that the drug was safe and well tolerated, with no serious or drug related adverse events reported. Pharmacokinetic data indicated high oral bioavailability and a favorable overall profile. Preliminary efficacy results were also positive, with statistically significant and dose dependent increases in activity of the target enzyme, alpha-galactosidase A. This open-label study enrolled 16 healthy volunteers. These results formed the basis of Amicus' recently initiated phase II trials of the drug.

December 9, 2002

Transkaryotic Therapies reported negative preliminary results from a phase III trial investigating Replagal (agalsidase alfa), an enzyme replacement for the treatment of Fabry Disease. Results showed that the preliminary data did not reach its primary end-point of renal function, as measured by glomerular filtration rate. The double blind, placebo-controlled study enrolled 80 subjects with Fabry Disease. Subjects were given Replagal (.2 mg/kg) every other week over a 40-minute intravenous infusion in a six-month regimen.