This Phase 3, Study was designed to confirm the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1

Gaucher disease is characterised by lysosomal accumulation of glucosylceramide due to impaired glucosylceramide hydrolysis. Type 1 Gaucher Disease, the most common form accounts for > 90% of cases and does not involve the CNS. Typical manifestations of type 1 Gaucher Disease include splenomegaly, hepatomegaly, thrombocytopenia, anemia, skeletal pathology and decreased quality of life. The disease manifestations are caused by the accumulations of glucosylceramide (storage material) in Gaucher cells which have infiltrated the spleen and liver as well as other tissue. Genz-112638 is a small molecule developed as an oral therapy which acts to specifically inhibit production of this storage material in Gaucher cells.

This study is designed to determine the efficacy, safety, and pharmacokinetics (PK) of Genz-112638 in adult patients (> 16 years) with Gaucher Disease type 1

• Drug: Genz-112638
  Capsule: 50 or 100 mg BID
• Drug: Placebo
  Capsule

• Active: Experimental
  Genz-112638
  Intervention: Drug: Genz-112638
• Placebo: Placebo Comparator
  Placebo
  Intervention: Drug: Placebo

Inclusion Criteria:

• The patient (and/or their parent/legal guardian) is willing and able to provide signed informed consent prior to any study-related procedures to be performed.
• The patient is 16 to 65 years old at the time of randomization.
• The patient has a confirmed diagnosis of Gaucher disease type 1.
• Male patients agree to use a medically accepted method of contraception throughout the study.
• Female patients of childbearing potential must have a documented negative pregnancy test prior to dosing. In addition all female patients of childbearing potential must use a medically accepted form of contraception throughout the study.

Exclusion Criteria:

• The patient has had a partial or total splenectomy.
• The patient has received pharmacological chaperones or miglustat within 6 months prior to randomization
• The patient has received enzyme replacement therapy within 12 months prior to randomization.
• The patient has type 2 or 3 Gaucher Disease or is suspected of having type 3 Gaucher Disease
• The patient has any clinically significant disease, other than Gaucher Disease, including cardiovascular, renal, hepatic. gastrointestinal (GI), Pulmonary, neurologic, endocrine, metabolic, (e.g. hypokalemia, hypomagnesemia), or psychiatric disease, other medical conditions, or serious intercurrent illness that may confound the study results, or, on the opinion of the investigator, may preclude participation in the study.
• Tha patient has tested positive for the human immunodeficiency virus (HIV)antibody, Hepatitis C antibody, or Hepatitis B surface antigen.
• The patient has received an investigational product within 30 days prior to randomization.
• The patient is pregnant or lactating.