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Efficacy and safety of oral venglustat versus intravenous imiglucerase in children aged 2‑11 years with Gaucher disease type 3

Verified siteRegistered drugNo placebo
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What is this trial about?

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

Gaucher disease type 3 is a rare inherited disorder that affects the immune system and causes the spleen, liver, and bone marrow to become enlarged and function poorly. The study compares an oral tablet called venglustat with an intravenous enzyme replacement called Cerezyme, which contains the active substance imiglucerase. The purpose of the study is to see whether venglustat can keep the spleen size stable compared with Cerezyme. Participants are children aged 2 to 11 who have already reached treatment goals with enzyme replacement therapy. They are randomly assigned to receive either the tablet taken by mouth each day or the infusion given through a vein every two weeks, and they remain in the study for about one year.

During the study, participants have regular check‑ups that include blood tests, a scan called MRI (which creates detailed pictures of internal organs) to measure spleen and liver size, and assessments of blood‑carrying protein (hemoglobin) and tiny blood‑clotting cells (platelet count). A questionnaire that looks at everyday skills and motor abilities is also completed. Blood samples are taken to measure substances that indicate disease activity, and any side effects or safety concerns are recorded throughout the study period.

The research process

The trial runs in 7 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Randomization

    After you join the study, you are randomly assigned to receive either venglustat (the test medication) or cerezyme (the active comparator). the assignment is made by the study team and you do not choose the group.

  2. Step 2

    Baseline assessments

    Before starting any medication, you undergo a series of baseline evaluations. these include a physical examination, blood tests to measure hemoglobin, platelet count, and disease‑related biomarkers, and an mri scan of the spleen and liver to record their size. you also complete the vineland adaptive behavior scale questionnaire, which assesses daily living skills.

  3. Step 3

    Start of study medication

    If you are assigned to the venglustat arm, you begin taking an oral tablet each day. the exact milligram dose is prescribed by the study protocol and you swallow the tablet with water.

    If you are assigned to the cerezyme arm, you receive an intravenous infusion of 60 u (units) of imiglucerase (the active substance in cerezyme). the infusion is given through a vein, usually in a clinic, according to the schedule defined by the study.

  4. Step 4

    Regular follow‑up visits

    Throughout the 52‑week study period you attend scheduled clinic visits, typically every four weeks. at each visit you have safety checks, blood draws to monitor hemoglobin, platelet count, and biomarker levels, and you report any side effects you may have experienced.

    For participants receiving cerezyme, the intravenous infusion is administered at each visit according to the study schedule.

    For participants receiving venglustat, you continue taking the daily oral tablet and may have a brief check to confirm you are taking the medication as directed.

    The study team also measures the concentration of venglustat in your blood at certain visits to ensure appropriate drug levels.

  5. Step 5

    Mid‑study safety monitoring

    If any serious side effects occur, additional unscheduled visits may be arranged to evaluate your condition and provide appropriate medical care. these visits are part of the safety monitoring built into the study.

  6. Step 6

    Week 52 final assessment

    At week 52 you return for the final study visit. this includes a repeat mri scan of the spleen and liver to compare size changes, blood tests for hemoglobin, platelet count, and disease biomarkers, and a repeat vineland adaptive behavior scale questionnaire.

    The study team also records any adverse events that occurred during the study and collects the final safety data.

  7. Step 7

    Study completion

    After the week 52 visit, the study medication is stopped and you are no longer required to follow the study schedule. you may discuss with your regular healthcare provider how to continue managing your condition after the trial.

Who can join the trial?

11 criteria

  • Age 2 to 11 years: You must be a child between two and eleven years old when you sign the consent form.
  • Gaucher disease type 3 diagnosis with a proven lack of acid β‑glucosidase activity: You need a confirmed medical diagnosis of this specific form of Gaucher disease, and lab tests must show that the enzyme called acid β‑glucosidase is deficient.
  • Having taken enzyme replacement therapy (ERT) such as Cerezyme (or a similar medication) for at least two years before joining the study, staying on the same dose for at least six months, meeting the doctor’s treatment targets, and being considered stable by your doctor for at least one year.
  • Meeting all of the following therapeutic goals:
    • Hemoglobin level ≥11.0 g/dL – a measure of the oxygen‑carrying protein in your blood.
    • Platelet count ≥100 000 per mm³ – the number of cells that help your blood clot.
    • Spleen volume less than 10 MN – the spleen size is smaller than a level doctors define as 10 MN.
    • Liver volume less than 1.5 MN – the liver size is smaller than a level doctors define as 1.5 MN.
    • No recent bone crisis (severe bone pain) and no symptomatic bone disease such as pain from osteonecrosis (bone tissue death) or pathological fractures (bones breaking easily) within the three months before screening.
    • If you have a history of seizures, they must be well‑controlled with medication that does not strongly affect the liver enzyme CYP3A (a system that processes many medicines).
    • Having a documented gaze palsy that is mainly horizontal, with slow or missing saccades (quick eye movements).
    • Weight of at least 10 kg (about 22 pounds) at the time of enrollment.

Who cannot join the trial?

21 criteria

  • The participant needs regular blood transfusions (receives blood often), which makes them ineligible.
  • The participant has had a major organ transplant such as a bone‑marrow or liver transplant.
  • The participant tests positive for hepatitis C antibodies, meaning they have been exposed to hepatitis C virus.
  • The participant tests positive for HIV‑1 or HIV‑2 antibodies, indicating a past or present HIV infection.
  • The participant tests positive for hepatitis B surface antigen (HBsAg) or has both hepatitis B core antibody (HBcAb) and a positive hepatitis B DNA test, showing an active hepatitis B infection.
  • The participant has had their spleen completely removed (total splenectomy) at any time, or partially removed (partial splenectomy) within the past 3 years.
  • The participant used chaperone therapy or any other substrate‑reduction therapy (treatments that help the body manage the disease) within the last 6 months, or used venglustat as a substrate‑reduction therapy before the study.
  • The participant takes strong or moderate drugs or foods (such as grapefruit juice) that affect the CYP3A enzyme system and cannot stop them.
  • The participant has taken any experimental (investigational) drug within the last 30 days or within five drug half‑lives (the time it takes for half the drug to leave the body), whichever is longer.
  • The participant is already enrolled in another experimental study.
  • The participant used venglustat within the last 3 months or within five drug half‑lives, whichever is longer.
  • The investigator believes the participant cannot follow the study requirements or cannot undergo study tests (for example, cannot have an MRI scan because of a medical reason).
  • The participant has a history of esophageal varices (enlarged veins in the food pipe) or liver infarction (area of dead liver tissue), or currently has liver enzyme levels (ALT/AST) or total bilirubin more than twice the normal limit, unless they have a condition called Gilbert syndrome.
  • The participant is allergic or highly sensitive to any of the study medicines or their ingredients.
  • The participant has any serious medical condition other than Gaucher disease, such as heart problems (congenital defects, coronary artery disease, valve disease, left‑side heart failure, serious rhythm problems), liver disease, stomach or intestinal disease, lung disease, nervous‑system disease, hormone or metabolism problems (like low potassium or magnesium), or psychiatric illness, that the investigator feels would prevent participation.
  • The participant has kidney problems with an estimated glomerular filtration rate (a measure of kidney function) less than 30 mL/min/1.73 m² at screening.
  • The participant has a history of cancer, except for basal cell carcinoma (a common skin cancer that is usually not serious).
  • The participant has progressive myoclonic epilepsy (a type of seizure disorder that worsens over time).
  • The participant requires invasive ventilatory support (a breathing machine inserted into the airway).
  • The participant needs non‑invasive ventilator support (a mask‑type breathing aid) while awake for more than 12 hours each day.
  • The participant is scheduled to be hospitalized as an inpatient, including for planned surgery, during the study period.
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Investigated drugs

  • Cerezyme

    is a medication given through an IV line that provides a missing enzyme needed by people with Gaucher disease type 3. The enzyme helps break down fatty substances that can build up in the body, especially in the spleen, liver, and bones. In this study, Cerezyme is used as the standard treatment to compare how well the new drug works.

  • venglustat

    is an oral tablet being tested as a possible new treatment for Gaucher disease type 3. It works by lowering the amount of certain fatty substances that the body cannot break down properly, helping to reduce their buildup. The trial is looking at whether taking venglustat can keep the spleen size stable, compared with the standard IV enzyme therapy.

What is already known about the treatment

  • Cerezyme (imiglucerase)

    This medication is supplied as a powder that is mixed with liquid to create a solution for intravenous infusion, which is given through a vein by a healthcare professional. It is an approved and widely used enzyme replacement therapy that has been studied in many clinical reports for treating Gaucher disease. The drug replaces the missing glucocerebrosidase enzyme, helping break down a fatty substance called glucocerebroside that builds up in cells. It belongs to the class of recombinant human glucocerebrosidase enzymes used for lysosomal storage disorders.

  • Venglustat

    Venglustat is taken as an oral tablet that patients swallow, and it is currently being tested in clinical trials and holds orphan‑drug status for rare diseases. It is designed to lower the production of glucocerebroside by blocking the enzyme glucosylceramide synthase, thereby reducing the material that accumulates in Gaucher disease. The drug is being investigated as a substrate‑reduction therapy for Gaucher disease type 3 and similar conditions. It is classified as a glucosylceramide synthase inhibitor, a type of small‑molecule therapy.

Investigated diseases

Gaucher disease type 1 - Gaucher disease type 1 is a genetic disorder caused by a missing enzyme that leads to buildup of fatty substances in certain cells. The accumulated material causes the spleen and liver to enlarge over time. Blood cells may become reduced, leading to fatigue and easy bruising. Bone tissue can become weak, resulting in pain or fractures. The condition usually progresses slowly, with organ size and blood abnormalities gradually worsening if not managed.
Trial detailsLast updated 7 Oct 2026
Age0-17PhasePhase IIITrial ID2026-525374-19-00Protocol codeEFC18362Estimated enrolment28 patientsSponsorSanofi-Aventis Recherche & Developpement

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