View clinical trials related to Gaucher Disease, Type 1.
Filter by:Part 1: Biomarker evaluation/screening phase Primary Objectives: - Evaluate cerebrospinal fluid (CSF) biomarkers in adult Gaucher disease Type 3 (GD3) patients that distinguish GD3 from adult Gaucher disease Type 1 (GD1) patients - Screen adult GD3 patients who qualify for treatment with venglustat in Parts 2, Part 3, and Part 4 Parts 2 and 3: Combination treatment phases Primary objectives: - Evaluate short-term (Part 2) and long-term (Part 3) safety and tolerability of venglustat in combination with Cerezyme in adult GD3 patients - Evaluate the change in CSF central nervous system (CNS) biomarkers (glucosylceramide [GL-1] and lyso-glucosylceramide [lyso-GL-1]) from adult GD3 patients receiving venglustat in combination with Cerezyme (Part 2 only) Part 4: Extended treatment phase with monotherapy Primary objectives: • Evaluate safety and tolerability of venglustat monotherapy in adult GD3 patients who have remained systemically stable on venglustat in combination with Cerezyme Parts 2 and 3: Combination treatment phases Secondary Objectives: - Evaluate the pharmacokinetics (PK) of venglustat in adult GD3 patients - Explore the efficacy of venglustat in combination with Cerezyme in infiltrative lung disease (ILD) in adult GD3 patients (Part 2 only) - Explore the efficacy of venglustat in combination with Cerezyme in systemic disease in adult GD3 patients - Explore the efficacy of venglustat in combination with Cerezyme on neurological function in adult GD3 patients - Explore plasma biomarkers (lyso-GL-1 and GL-1) in adult GD3 patients - Explore CSF biomarkers other than lyso-GL-1 and GL-1 in adult GD3 patients (Part 2 only) Part 4: Extended treatment phase with monotherapy Secondary objectives: - Explore the efficacy of venglustat in systemic disease in adult GD3 patients - Explore the efficacy of venglustat on neurological function in adult GD3 patients - Explore plasma biomarkers (lyso-GL-1 and GL-1) in adult GD3 patients
This Phase 3 study is designed to confirm the efficacy and safety of eliglustat tartrate (Genz-112638) in participants with Gaucher disease type 1 who have reached therapeutic goals with enzyme replacement therapy (ERT).
This Phase 3 study is designed to confirm the efficacy and safety of eliglustat tartrate (Genz-112638) in participants with Gaucher disease Type 1.
Gaucher disease is a genetic disease that results in a deficiency of an enzyme acid beta-glucosidase, also known as glucocerebrosidase. This enzyme is needed to digest a substrate (lipid) called glucosylceramide and, to a lesser degree, glucosylsphingosine. In participants with Gaucher disease, the liver, spleen, bone marrow and brain show increases in lipid concentration, specifically in cells derived from the monocyte/macrophage system. Eliglustat tartrate (Genz-112638) is an oral drug that may regulate the Gaucher disease process by decreasing the synthesis of glucosylceramide. The primary objective of this study is to evaluate the efficacy, safety and pharmacokinetics (PK) of eliglustat tartrate, administered as an oral dose of either 50 milligram (mg) twice daily (BID) or 100 mg BID, to men and women with Gaucher disease Type 1 for 52 weeks.