Not recruitingRare disease

Study of Venglustat and Imiglucerase for Adult Patients 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, specifically types 1 and 3. Gaucher disease is a genetic disorder where fatty substances accumulate in certain organs, particularly the spleen and liver. The study involves a treatment using a medication called venglustat, which is taken as a capsule, and another medication called Cerezyme (also known as imiglucerase), which is given through an intravenous infusion. Venglustat is also referred to by its code name, GZ402671 - SAR402671.

The purpose of the study is to evaluate the safety and tolerability of venglustat, both in combination with Cerezyme and as a standalone treatment, in adult patients with Gaucher disease type 3. The study is divided into four parts. Initially, it involves evaluating certain markers in the cerebrospinal fluid, which is the fluid surrounding the brain and spinal cord, to distinguish between Gaucher disease types 1 and 3. Following this, the study will assess the short-term and long-term effects of the combination treatment. Finally, the study will explore the effects of venglustat alone in patients who have shown stability with the combination treatment.

Throughout the study, participants will receive either the combination of venglustat and Cerezyme or venglustat alone, depending on the phase of the study. The study aims to monitor changes in specific markers related to the central nervous system and ensure the treatment is safe and well-tolerated by the participants. The study will not explain the use of a placebo, as it is not part of this trial.

The research process

The trial runs in 4 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Biomarker evaluation and screening
This phase involves evaluating specific markers in the cerebrospinal fluid (CSF) to distinguish between Gaucher disease Type 3 (GD3) and Type 1 (GD1).
Screening is conducted to determine eligibility for treatment with venglustat in subsequent phases.
Step 2
Short-term combination treatment
In this phase, the safety and tolerability of venglustat in combination with Cerezyme are evaluated over a short period.
The treatment involves taking venglustat orally in the form of hard capsules and receiving Cerezyme through intravenous infusion.
Changes in specific CSF markers related to the central nervous system are monitored.
Step 3
Long-term combination treatment
This phase extends the evaluation of safety and tolerability of the combination treatment over a longer duration.
The same administration methods for venglustat and Cerezyme are continued.
Ongoing monitoring of health and response to treatment is conducted.
Step 4
Monotherapy extension
Participants who have remained stable on the combination treatment transition to venglustat monotherapy.
The focus is on assessing the safety and tolerability of venglustat alone.
Regular health assessments are performed to ensure continued stability.

Who can join the trial?

10 criteria

The participant must be between 18 and 40 years old for Gaucher disease Type 1 (GD1) or at least 18 years old for Gaucher disease Type 3 (GD3).
The participant must agree not to eat or drink grapefruit or products containing grapefruit for 72 hours before the first dose of the study medication and throughout the treatment period.
The participant must have a condition called **oculomotor apraxia**, which affects eye movement.
Female participants who can have children and male participants must agree to either not have sexual activity or use two effective methods of birth control during the study and for a certain period after the last dose of the study medication.
The participant must provide written consent to join the study before any study-related procedures are done.
The participant must have a confirmed diagnosis of Gaucher disease Type 1 (GD1) or Type 3 (GD3) with a specific enzyme deficiency.
The participant must have been receiving **enzyme replacement therapy (ERT)**, like Cerezyme, for at least 3 years before joining the study, with a stable dose for at least 6 months, and must be considered clinically stable for at least 1 year.
The participant must meet certain health goals related to Gaucher disease, such as specific levels of hemoglobin and platelets, and have a spleen and liver size within certain limits. They should not have had a bone crisis or significant bone pain recently.
If the participant is a female who can have children, she must have a negative pregnancy test at the start of the study.
If the participant has a history of seizures, except for a type called **myoclonic seizures**, they must be well controlled with medication that does not strongly affect certain liver enzymes.

Who cannot join the trial?

8 criteria

Patients who do not have **Gaucher disease type 1** or **Gaucher disease type 3**.
Patients who are not adults. This means individuals who are not fully grown or developed.
Patients who are not able to safely participate in the study due to other health conditions or risks.
Patients who are not able to follow the study procedures or instructions.
Patients who are pregnant or breastfeeding.
Patients who are currently participating in another clinical trial.
Patients who have a history of allergic reactions to the study medications.
Patients who have any condition that the study doctors believe would make it unsafe for them to participate.

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Verified sites

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Center For Pediatric And Adolescent Medicine Of The Johannes Gutenberg University Mainz
Mainz, Germany

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Investigated drugs

Venglustat
is a medication being studied for its potential to treat Gaucher disease Type 3. In this clinical trial, it is used in combination with another medication to evaluate its safety, tolerability, and effects on certain biomarkers in the body. The trial also includes a phase where venglustat is used alone to see how well patients can tolerate it over a longer period.
Cerezyme
is another medication used in this trial. It is combined with venglustat to assess how the two medications work together in treating Gaucher disease Type 3. Cerezyme is already known for its role in treating Gaucher disease by replacing a missing enzyme in the body, and this trial aims to see if adding venglustat can improve treatment outcomes.

What is already known about the treatment

Venglustat – Venglustat is administered orally and is currently being studied in clinical trials for its safety and effectiveness in treating Gaucher disease types 1 and 3. It is primarily used in combination with Cerezyme, another medication, to manage these conditions. Venglustat works by inhibiting an enzyme involved in the production of certain lipids, which helps reduce their accumulation in the body. It is classified as a glucosylceramide synthase inhibitor and is being evaluated for its potential to improve neurological symptoms in patients with Gaucher disease type 3.

Investigated diseases

Gaucher disease type 1
This is a genetic disorder caused by a deficiency in the enzyme glucocerebrosidase, leading to the accumulation of fatty substances in certain organs, particularly the spleen and liver. It is the most common form of Gaucher disease and primarily affects the organs without involving the central nervous system. Symptoms may include an enlarged spleen and liver, bone pain, and fatigue. The disease can vary in severity, with some individuals experiencing mild symptoms while others have more significant health issues. It is a lifelong condition that can affect quality of life but does not typically involve neurological symptoms.
Gaucher disease type 3
This form of Gaucher disease is also caused by a deficiency in the enzyme glucocerebrosidase, leading to the buildup of fatty substances in the body. Unlike type 1, type 3 involves neurological symptoms due to the accumulation of these substances in the central nervous system. Symptoms can include eye movement disorders, seizures, and cognitive impairment, in addition to the systemic symptoms seen in type 1. The progression of neurological symptoms can vary, with some individuals experiencing a slow progression while others may have more rapid changes. It is a chronic condition that affects both systemic and neurological health.