Active — Not RecruitingPhase 2

Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension

United States, Germany, Japan12 participantsStarted 2017-01-04

Plain-language 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

Who can participate

Age range18 Years

SexALL

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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 \<10 multiples of normal (MN), or total splenectomy (provided the splenectomy occurred \>3 years prior to randomization). * Liver volume \<1.5 MN. * No bone crisis and free of symptomatic bone disease such as bone pain attributable to osteonecrosis and/or pathological fractures within 3 months prior to screening. * Participant has maintained GD therapeutic goals defined as all of the following to be eligible for entering Part 4 of this study: …

What they're measuring

Number of participants with Treatment Emergent Adverse Events (TEAEs)

Timeframe: From screening up to end of study, up to approximately 10 years

Assessment of pharmacodynamic (PD) parameter: Lyso-glucosylceramide (lyso-GL1) and glucosylceramide (GL-1) in cerebrospinal fluid (CSF)

Timeframe: From screening through Week 52

Trial details

NCT IDNCT02843035

SponsorGenzyme, a Sanofi Company

Sponsor typeINDUSTRY

Study typeINTERVENTIONAL

Primary completion2026-10-30

View on ClinicalTrials.gov More Gaucher Disease Type 1 trials