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Study on the Effectiveness and Safety of Venglustat for Adults and Children with Gaucher Disease Type 3

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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying *Gaucher disease Type 3*, a rare genetic disorder that affects various parts of the body, including the brain. The study aims to evaluate the effectiveness and safety of a medication called *venglustat* (also known by its code names GZ402671 and SAR402671) in both adults and children who have been managing their condition with a treatment known as *Enzyme Replacement Therapy* (ERT). The trial will compare *venglustat* to another treatment called *Cerezyme*, which is a form of ERT that contains the active substance *imiglucerase*. Participants in the study will receive either *venglustat* or *Cerezyme*, and some may receive a placebo.

The purpose of the study is to see how well *venglustat* works in improving symptoms of *Gaucher disease Type 3*, such as problems with movement and thinking skills. The study will look at changes in movement using a tool called the Scale for the Assessment and Rating of Ataxia (SARA) and changes in thinking skills using the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS). Participants will be monitored over a period of time to assess these changes and to ensure their safety while taking the medication.

Throughout the study, participants will have regular check-ups to monitor their health and any changes in their condition. The study will also track other health indicators, such as spleen and liver size, blood levels, and any side effects that may occur. The trial is designed to provide valuable information on whether *venglustat* can be a safe and effective treatment option for people with *Gaucher disease Type 3*.

The research process

The trial runs in 6 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Initial assessment

    Upon joining the study, an initial assessment is conducted to confirm eligibility. This includes verifying a clinical diagnosis of Gaucher disease type 3 and ensuring stability on enzyme replacement therapy (ERT) for at least one year.

    The participant's medical history is reviewed, including hemoglobin levels, platelet count, spleen and liver volume, and any history of bone crises or symptomatic bone disease.

  2. Step 2

    Randomization

    Participants are randomly assigned to receive either the investigational medication venglustat or the active comparator Cerezyme.

    This process is double-blind, meaning neither the participant nor the study team knows which treatment is being administered.

  3. Step 3

    Treatment phase

    Participants receive venglustat orally in tablet form or Cerezyme intravenously as a solution for infusion.

    The dosage and frequency of administration are determined by the study protocol and monitored by the study team.

  4. Step 4

    Monitoring and assessments

    Regular assessments are conducted to monitor the participant's health and response to treatment. This includes evaluating ataxia using the Scale for the Assessment and Rating of Ataxia (SARA) and cognitive function using the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS).

    Additional assessments include measuring changes in spleen and liver volume, hemoglobin levels, and platelet count.

  5. Step 5

    Safety evaluations

    Safety evaluations are performed to identify any treatment-emergent adverse events (TEAEs) or serious adverse events (SAEs).

    Participants are monitored for changes in mood using the Beck Depression Inventory II (BDI-II) and the Patient Health Questionnaire 9 (PHQ-9).

  6. Step 6

    Completion and follow-up

    Upon completion of the treatment phase, a final assessment is conducted to evaluate the overall efficacy and safety of the treatment.

    Participants may be asked to attend follow-up visits to monitor long-term outcomes and any lasting effects of the treatment.

Who can join the trial?

15 criteria

  • The participant has been receiving **ERT** (enzyme replacement therapy) like Cerezyme for at least 3 years before joining the study, with a stable dose for at least 6 months, and is considered clinically stable for at least 1 year by the doctor.
  • The participant's health goals include:
    • **Hemoglobin** level of at least 11.0 g/dL for females and 12.0 g/dL for males. Hemoglobin is a protein in red blood cells that carries oxygen.
    • **Platelet count** of at least 100,000/mm3. Platelets help with blood clotting.
    • **Spleen volume** less than 10 times the normal size.
    • **Liver volume** less than 1.5 times the normal size.
    • No bone crisis and no bone pain due to conditions like osteonecrosis or fractures in the last 3 months.
    • Signed written informed assent/consent is required, meaning the participant agrees to join the study after understanding it.
    • Adult participants must be 18 years or older.
    • Pediatric participants must be between 12 and 18 years old.
    • The participant has a clinical diagnosis of **GD3** (Gaucher's disease type III) and a confirmed deficiency of **acid beta-glucosidase** activity, which is an enzyme related to the disease.
    • The participant has a modified **SARA** score of 1 or above. SARA is a scale used to measure coordination and balance issues.
    • The participant has **gaze palsy**, mainly horizontal, with slow or absent eye movements called saccades.
    • If the participant has a history of seizures, they must be well controlled with medication that does not strongly affect the enzyme **CYP3A**.
    • Participants must weigh at least 30 kg.
    • Sexually active male or female participants must use contraception, and female participants must not be pregnant or breastfeeding. Male participants must not donate sperm.

Who cannot join the trial?

9 criteria

  • Patients who do not have **Gaucher's disease type III** cannot participate.
  • Individuals younger than 12 years old or older than 18 years old are not eligible.
  • Participants who are not able to understand or follow the study procedures will be excluded.
  • Patients who are pregnant or breastfeeding cannot take part in the study.
  • Individuals with other serious health conditions that might interfere with the study will be excluded.
  • Patients who are currently participating in another clinical trial are not eligible.
  • Individuals who have had a recent major surgery or are planning to have surgery during the study period cannot participate.
  • Patients who have a history of drug or alcohol abuse will be excluded.
  • Individuals who are unable to provide informed consent, which means they cannot agree to participate after understanding the study, are not eligible.
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Investigated drugs

  • Venglustat

    is a medication being studied for its effectiveness in treating Gaucher disease Type 3. It is being compared to another treatment to see how well it works in improving symptoms like movement difficulties and cognitive function in patients.

  • Cerezyme

    is a medication used as a standard treatment for Gaucher disease. It helps replace the missing enzyme in patients, which can improve symptoms and help them reach therapeutic goals. In this study, it serves as a comparison to evaluate the effectiveness of venglustat.

What is already known about the treatment

  • Venglustat

    Venglustat is administered orally in the form of capsules. It is currently being studied in clinical trials for its effectiveness in treating Gaucher's disease type III. The main therapeutic indication for venglustat is to manage symptoms associated with this condition, particularly focusing on neurological aspects such as ataxia and cognitive function. At the molecular level, venglustat works by inhibiting the enzyme glucosylceramide synthase, which reduces the accumulation of certain lipids in cells. It is classified pharmacologically as a substrate reduction therapy.

  • Cerezyme

    Cerezyme is administered through intravenous infusion. It is an established treatment for Gaucher's disease and is widely used in medical practice. The primary therapeutic indication for Cerezyme is to replace the deficient enzyme in patients with Gaucher's disease, helping to reduce symptoms and improve quality of life. Its mechanism of action involves supplementing the enzyme glucocerebrosidase, which breaks down fatty substances in the body. Cerezyme is classified as an enzyme replacement therapy.

Investigated diseases

Gaucher's disease type III – This is a genetic disorder where fatty substances accumulate in certain organs, particularly the spleen and liver, causing them to enlarge. It is characterized by neurological symptoms, including ataxia, which affects coordination and balance. Patients may also experience cognitive difficulties. The disease progresses with varying severity, and symptoms can include bone pain and fractures, fatigue, and anemia. It is a chronic condition that affects both children and adults.
Trial detailsLast updated 7 Oct 2026
Age18+ yearsPhasePhase IIITrial ID2024-514381-39-00Protocol codeEFC17215 - LEAP2MONOEstimated enrolment50 patientsSponsorSanofi-Aventis Recherche & Developpement

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