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Active Not Recruiting
NCT02843035
Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension
Conditions: Gaucher Disease Type 1, Gaucher Disease Type 3
Sex: All
Ages: 18 Years – N/A
Healthy volunteers: No
Phase: PHASE2
Enrollment: 12
Sponsor: Genzyme, a Sanofi Company
Location: Yale University School of Medicine Site Number : 840002 New Haven Connecticut
Summary
Part 1: Biomarker evaluation/screening phase
Primary Objectives:
* Evaluate cerebrospinal fluid (CSF) biomarkers in adult Gaucher disease Type 3 (GD3) participants that distinguish GD3 from adult Gaucher disease Type 1 (GD1) participants
* Screen adult GD3 participants 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 participants
* Evaluate the change in CSF central nervous system (CNS) biomarkers (glucosylceramide \[GL-1\] and lyso-glucosylceramide \[lyso-GL-1\]) from adult GD3 participants 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 participants 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 participants
* Evaluate the efficacy of venglustat in combination with Cerezyme in systemic disease in adult GD3 participants by assessing spleen volume, liver volume, hemoglobin level and platelet count
* Evaluate the efficacy of venglustat in combination with Cerezyme on neurological function in adult GD3 participants by assessing Ataxia using the Scale for the Assessment and Rating of Ataxia (SARA)
* Evaluate plasma biomarkers (lyso-GL-1 and GL-1) in adult GD3 participants Part 4: Extended treatment phase with monotherapy
Secondary objectives:
* Evaluate the efficacy of venglustat in systemic disease in adult GD3 participants by assessing spleen volume, liver volume, hemoglobin level and platelet count
* Evaluate the efficacy of venglustat on neurological function in adult GD3 participants by assessing Ataxia using the Scale for the Assessment and Rating of Ataxia (SARA)
* Evaluate plasma biomarkers (lyso-GL-1 and GL-1) in adult GD3 participants
Eligibility Criteria
Inclusion Criteria:
GD3 and GD1 participants must meet the following criteria to be eligible for this study:
* GD1 participant is ≥18 and ≤40 years of age.
* GD3 participant is ≥18 years of age.
* Participant must provide written informed consent prior to any study-related procedures being performed.
* Participant has a clinical diagnosis of Gaucher disease Type 1 (GD1) or Gaucher disease Type 3 (GD3) and documented deficiency of acid beta-glucosidase activity confirming this diagnosis.
* Participant has received ERT (Cerezyme or other ERT; as deemed appropriate by local regulations) for at least 3 years prior to enrollment, on a stable dose for at least 6 months and is within the therapeutic goals defined below, and is deemed clinically stable for at least 1 year by the Investigator.
* Participant has reached Gaucher disease therapeutic goals defined as all of the following to be eligible for this study:
* Hemoglobin level of ≥11.0 g/dL for females and ≥12.0 g/dL for males.
* Platelet count ≥100,000/mm3.
* Spleen volume \3 years prior to randomization).
* Liver volume \
Source: ClinicalTrials.gov (NCT02843035). StuddyBuddy aggregates publicly available trial information.