Venglustat + Cerezyme for Gaucher Disease
(LEAP Trial)
Trial Summary
Will I have to stop taking my current medications?
The trial does not specify if you must stop taking your current medications. However, you cannot take certain medications that affect liver enzymes or are known to cause cataracts, and you must avoid grapefruit products. It's best to discuss your current medications with the trial team.
What data supports the effectiveness of the drug Imiglucerase for Gaucher Disease?
Imiglucerase is effective in treating Gaucher Disease by improving symptoms like enlarged organs, anemia (low red blood cell count), and bone issues. Studies show it helps reduce spleen size, decreases the need for blood transfusions, and improves heart and lung symptoms in patients with Type 1 Gaucher Disease.12345
Is Venglustat + Cerezyme safe for humans?
The safety of Venglustat specifically is not detailed in the provided studies, but related treatments like imiglucerase and velaglucerase alfa for Gaucher disease have been generally well tolerated. Common mild to moderate side effects include headache, joint pain, and cold-like symptoms, with rare serious allergic reactions.36789
How is the drug Venglustat + Cerezyme unique for treating Gaucher Disease?
The combination of Venglustat and Cerezyme (imiglucerase) is unique because Venglustat is an investigational oral drug that can penetrate the brain and inhibit glucosylceramide synthase, potentially addressing neurological symptoms of Gaucher Disease type 3, which are not targeted by standard enzyme replacement therapies like imiglucerase alone.17101112
What is the purpose of this trial?
Part 1: Biomarker evaluation/screening phasePrimary 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 phasesPrimary 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 monotherapyPrimary 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 phasesSecondary 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 monotherapySecondary 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
Research Team
Clinical Sciences & Operations
Principal Investigator
Sanofi
Eligibility Criteria
Adults aged 18+ with Gaucher Disease Type 3 who have been on enzyme replacement therapy for at least 3 years and meet specific health goals can join. They must not be pregnant, agree to use contraception, and avoid grapefruit products. Exclusions include myoclonic seizures, severe kidney issues, hypersensitivity to Cerezyme, or other significant health problems.Inclusion Criteria
Exclusion Criteria
Timeline
Screening
Participants are screened for eligibility to participate in the trial
Biomarker Evaluation
Evaluate cerebrospinal fluid (CSF) biomarkers in adult Gaucher disease Type 3 (GD3) participants
Combination Treatment
Participants receive venglustat in combination with Cerezyme to evaluate short-term and long-term safety and tolerability
Extended Treatment with Monotherapy
Evaluate safety and tolerability of venglustat monotherapy in participants who have remained stable
Follow-up
Participants are monitored for safety and effectiveness after treatment
Treatment Details
Interventions
- Imiglucerase
- Venglustat
Find a Clinic Near You
Who Is Running the Clinical Trial?
Genzyme, a Sanofi Company
Lead Sponsor
David Meeker
Genzyme, a Sanofi Company
Chief Executive Officer since 2011
MD from the University of Vermont Medical School, Advanced Management Program at Harvard Business School
Jean-Paul Kress
Genzyme, a Sanofi Company
Chief Medical Officer since 2015
MD from Faculte Necker-Enfants Malades, Paris