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Gaucher Disease

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February 28, 2011

Genzyme reported long-term results from a phase II trial of eliglustat tartrate for Gaucher disease. This open label trial enrolled 23 subjects who received eliglustat tartrate 50 or 100 mg capsules orally twice daily. Nineteen subjects continued on the study for three years. Sustained or further improvements were observed across all endpoints. Spleen volume decreased from baseline by a mean of 61% and liver volume decreased from baseline by 29%. Hemoglobin level increased from baseline by a mean of 2.6 grams per deciliter and platelet count increased from baseline by a mean of 91%. In 18 subjects with dark marrow in the femur visible by MRI at baseline, five improved by one year, seven by two years and 10 by three years, with the other eight patients remaining stable. In 15 subjects with results available at all time points, bone mineral density in the lumbar spine showed clinically and statistically significant improvements after one year of treatment, which further improved after two years and were sustained after three years of treatment.

February 22, 2010

Protalix reported positive results from a phase III trial of taliglucerase alfa for the treatment of Gaucher disease. This 9-month, randomized, double-blind, parallel group, dose-ranging study enrolled 31 treatment naive subjects across several international sites. The subjects received either 60 units/kg or 30 units/kg of taliglucerase alfa administered intravenously once every two weeks. The primary endpoint, a 20% mean reduction in spleen volume after nine months compared with baseline values, was reached for both arms. The mean reduction in spleen volume was 38% for the 60 U/kg group and 26.9% for the 30 U/kg group (p<0.0001). These reductions were observed after six months of treatment. The secondary endpoints were also reached statistical significance with both doses. In the 60 U/kg dose arm there was a mean increase in hemoglobin of 2.2 g/dL or 22.2% (p<0.0001), a mean decrease in liver volume of 11.1% (p<0.0001) and a mean elevation in platelet count of 41,494 ml or 72.1% (p≡0.0031). In the 30 U/kg dose arm there was a mean increase in hemoglobin level of 1.6 g/dL or 14.8% (p&rquiv;0.0010) and a mean decrease in liver volume of 10.48% (p≡0.0041); a nominal elevation in platelet count was also seen (11,427 ml or 13.7%; p≡.0460). Taliglucerase alfa was well tolerated and no serious or severe adverse events were reported.

October 19, 2009

Protalix reported positive preliminary results from a phase III trial of Uplyso for the treatment of Gaucher disease. This 9-month, randomized, double-blind, parallel group, dose-ranging study enrolled 31 treatment naive subjects across several international sites. The subjects received either 60 units/kg or 30 units/kg of Uplyso administered intravenously once every two weeks. The primary endpoint, mean reduction in spleen volume after nine months compared with baseline values, was reached for both arms (p<0.0001). The reductions were observed after six months of treatment. The secondary endpoints were also reached with statistical significance at both doses. At the 60 U/kg dose, an increase in hemoglobin level, decrease in liver size and increase in platelet count were observed. At the 30 U/kg dose, improvements were observed in hemoglobin level and liver size and significant nominal elevation in platelet count. Uplyso was well tolerated and no serious adverse events were reported

August 10, 2009

Shire reported positive preliminary results from a phase III trial of velaglucerase alfa for the treatment of Gaucher disease. This multicenter, randomized, double-blind, parallel-group, safety, efficacy and pharmacokinetic study enrolled 25 treatment naive subjects with type I Gaucher disease. The subjects received bi-monthly intravenous dosing of velaglucerase alfa at 45 and 60 U/kg, for 12 months. The primary endpoint, the increase in hemoglobin concentration from baseline, was reached with statistical significance in the 60 U/kg dose arm compared with baseline (p<0.0001). Statistically significant improvements compared with baselines were also observed in platelet and spleen sizes. While the primary endpoint was not reached with statistical significance in the 40 U/kg dose arm, statistically significant improvements in hemoglobin, platelet count, and spleen volume were demonstrated. Velaglucerase alfa was generally well tolerated with no drug-related serious adverse events.

May 12, 2008

Genzyme reported positive preliminary results from an ongoing phase II trial of Genz-112638 for the treatment of Gaucher Disease. This open label study enrolled 26 adult subjects with Type 1 Gaucher disease at medical centers in North America, South America, Europe and Israel. The primary endpoints were changes in hemoglobin, platelet levels and spleen volume. At six months spleen volumes had decreased from baseline by a mean of 27% of the 21 subjects for whom data were available; at one year spleen volumes had decreased by 40% among 11 evaluable subjects. At six months hemoglobin levels had increased from baseline by a mean of 0.9 grams per deciliter of blood among 17 evaluable subjects; at one year hemoglobin levels had increased by 1.3 grams per deciliter among 13 evaluable subjects. Platelet counts increased from baseline by a mean of 18% among 17 subjects treated for six months and by 34% among 13 subjects with available data at one year. Chitotriosidase levels decreased from baseline by a mean of 30% at six months among 20 evaluable and by 50% among 12 evaluable subjects treated for one year. All reported adverse events were mild and transient in nature. Genzyme is currently developing phase III protocols and expects to commence these studies in 2009.

January 14, 2008

Amicus released positive interim results from a phase II trial of Plicera for the treatment of Gaucher disease. This randomized, open label, dose comparison, parallel assignment study enrolled thirty subjects already receiving enzyme replacement therapy. Following cessation Cerezyme, an enzyme replacement therapy, the subjects received multiple doses of Plicera for four weeks. Reported data are from the first twenty treated subjects. Plicera was generally well-tolerated at all doses evaluated and no serious adverse events were reported. GCase activity as measured in white blood cells was increased in fifteen of the twenty subjects. The five subjects without a clear increase were in either the lowest dose cohort or the cohort dosed least frequently. Based on the results, Amicus plans to continue with the development of Plicera.

March 26, 2007

Amicus released positive results from two phase I trials of Plicera for the treatment of Gaucher disease. These double-blind, placebo-controlled, dose-escalation trials studied the safety, tolerability and pharmacokinetics of Plicera in healthy subjects. The first trial enrolled 36 subjects who received a single dose of Plicera at one of five dose levels. The second trial enrolled 18 subjects who received multiple doses of one of three dose levels of Plicera, once daily for 7 consecutive days. Treatment was well tolerated and safe at all dose levels, with no reported serious adverse events. In the multiple dose study, a dose-dependent increase in GCase levels was observed in white blood cells. Based on the results, Amicus initiated two phase II trials to evaluate further safety and efficacy parameters of Plicera.

July 8, 2002

Oxford GlycoSciences has received a complete response letter from the FDA stating that Vevesca (OGT 918), a treatment for Gaucher disease, is not approvable. The FDA expressed that Oxford GlycoSciences has not provided sufficient support for the safety and efficacy of the investigational drug. As a result, the company would need to conduct additional clinical studies prior to an approval of the new drug application (NDA). Oxford GlycoSciences plans to request a meeting with FDA representatives to review the letter and identify the best course of action.