Venglustat + Cerezyme for Gaucher Disease

(LEAP Trial)

Recruiting at 17 trial locations

Age: 18+

Sex: Any

Travel: May Be Covered

Time Reimbursement: Varies

Trial Phase: Phase 2

Waitlist Available

Sponsor: Genzyme, a Sanofi Company

No Placebo Group

Prior Safety Data

Trial Summary

What is the purpose of this trial?

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

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

I am willing to use birth control or practice abstinence during and after the study.

My Gaucher disease is under control, meeting all treatment goals.

My seizures are under control with medication that doesn't strongly affect CYP3A.

Exclusion Criteria

I experience sudden, brief muscle jerks.

I need regular blood transfusions to manage my condition.

I do not have any serious health issues other than Gaucher's disease that would stop me from joining.

Treatment Details

Interventions

• Imiglucerase (Enzyme Replacement Therapy)
• Venglustat (Substrate Reduction Therapy)

Trial Overview The trial tests the safety and effects of venglustat in combination with Cerezyme on brain biomarkers in adults with Gaucher Disease Type 3. It includes a screening phase followed by short-term and long-term treatment phases with both drugs, then an extension phase where only venglustat is given.

Participant Groups

Group I: Open label (OL) venglustat Experimental Treatment 2 Interventions

Administered once a day orally for up to approximately 10 years. Participants will continue their usual dose of Cerezyme during Part 1, Part 2 and Part 3. There is no administration of Cerezyme in Part 4 unless administrated as rescue treatment.

Who Is Running the Clinical Trial?

Genzyme, a Sanofi Company

Lead Sponsor

Trials

528

Recruited

186,000+

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