Health Condition 1: null- Gaucher Disease Type I
Conditions
Interventions
Intervention1: Genz 112638: Capsule 50 & 100 mg
Control Intervention1: Placebo: Capsule
Sponsors
Genzyme Europe
Eligibility
Inclusion criteria
Inclusion criteria: 1. The patient is greater than or equal to 18 years of age. 2. The patient has a diagnosis of Gaucher disease type 1 confirmed by a documented deficiency of acid Beta-glucosidase activity by enzyme assay. 3. The patient has any of the following abnormalities at the time of Screening: -Hemoglobin level greater than ot equal to 9 g/dL (mean of 2 measurements); -Platelet count greater than ot equal to 70,000/mm3 (mean of 2 measurements); -Spleen volume less than or equal to 25 multiples of normal (MN); -Liver volume less than or equal to 2.0 MN. 4. The patient consents to provide a blood sample for genotyping for Gaucher disease and for cytochrome P4502D6 (CYP2D6) to categorize the patients predicted rate of metabolism, if these genotyping results are not already available for the patient.
Exclusion criteria
Exclusion criteria: 1. The patient received pharmacological chaperones or miglustat within 6 months prior to administration of the first dose of Genz-112638 in this study. 2. The patient has had a partial or total splenectomy within 3 years prior to administration of the first dose of Genz-112638 in this study. 3. The patient has any evidence of neurologic disorder (e.g., peripheral neuropathy, tremor, seizures, Parkinsonism or cognitive impairment) or pulmonary involvement (e.g., pulmonary hypertension) as related to Gaucher disease. 4. The patient is transfusion-dependent. 5. The patient has a documented deficiency of iron, vitamin B-12, or folate that requires treatment not yet initiated or, if initiated, the patient has not been stable under treatment for at least 3 months prior to administration of the first dose of Genz-112638 in this study. 6. The patient has documented prior esophageal varices or liver infarction or current liver enzymes (alanine transaminase [ALT]/aspartate aminotransferase [AST]) or total bilirubin greater than 2 times the upper limit of normal (ULN), unless the patient has a diagnosis of Gilbert Syndrome. 7. The patient has any clinically significant disease, other than Gaucher disease, including cardiovascular, renal, hepatic, gastrointestinal, pulmonary, neurologic, endocrine, metabolic (including hypokalaemia or hypomagnesemia), or psychiatric disease, other medical conditions, or serious intercurrent illnesses that, in the opinion of the Investigator, may preclude participation in the study. 8. The patient is known to have any of the following: Clinically significant coronary artery disease including history of myocardial infarction [MI] or ongoing signs or symptoms consistent with cardiac ischemia or heart failure; or clinically significant arrhythmias or conduction defect such as 2nd or 3rd degree atrioventricular (AV) block, complete bundle branch block, prolonged QTc interval, or sustained ventricular tachycardia (VT).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary outcome of the study is to measure the number of randomized patients who remain stable after treatment with Genz-112638 for both dosing regimens (BID full dose, QD full dose) separatelyTimepoint: Week 52 | — |
Secondary
| Measure | Time frame |
|---|---|
| The secondary outcome would be the see the Improvement in Hemoglobin level, and platelet count, Improvement in Spleen and liver volumes (in MN) Decrease in bone disease assessed by DXA and MRI ; and changes in the Gaucher assessments (mobility, bone crisis, and bone pain) as compared to baselineTimepoint: Week 52 | — |
Countries
Austria, Croatia, France, Greece, India, Netherlands, Portugal, Romania, Russian Federation, Serbia, Sweden
Contacts
Public ContactDr Senthilnathan Mohanasundaram
Medical Director, Genzyme
Outcome results
None listed