Active not recruitingPHASE2INTERVENTIONAL

Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension

This research study is investigating a new medication called venglustat for adults living with Gaucher disease, particularly types 1 and 3. Researchers are aiming to understand how venglustat works in the brain and body. The study has several parts. First, they will compare brain markers in people with Type 1 and Type 3 Gaucher disease. Then, they will look at the safety and if venglustat, when taken with an existing treatment called Cerezyme, helps improve symptoms like spleen and liver size, blood counts, and brain function in those with Type 3. A later part will assess venglustat on its own for Type 3 Gaucher disease in people who have been stable. The study will also track how the body uses venglustat and its overall effects.

At a glance

Status

Active not recruiting

Phase

PHASE2

Sponsor

Genzyme, a Sanofi Company

Enrolment target

Start

04 Jan 2017

Estimated completion

30 Oct 2026

Gaucher Disease Type 1 Gaucher Disease Type 3

What is this study about?

This study is designed to learn more about a new medication called venglustat for adults who have a genetic condition known as Gaucher disease. There are different types of Gaucher disease, and this study focuses on Types 1 and 3. Gaucher disease happens when the body doesn't produce enough of a specific enzyme, leading to a build-up of certain fatty substances in organs like the spleen, liver, and sometimes the brain.

The study has a few main goals. Initially, researchers want to identify specific markers in the fluid surrounding the brain and spinal cord that are different between Type 1 and Type 3 Gaucher disease. This helps understand the disease better. For people with Type 3 Gaucher disease, the study will then look at whether venglustat, when given alongside an existing treatment called Cerezyme, is safe and helps improve symptoms. These symptoms can include the size of the spleen and liver, blood cell counts, and how well the brain is working.

Finally, for those with Type 3 Gaucher disease who have been doing well on the combination treatment, the study will explore whether taking venglustat on its own is safe and effective in managing their condition. Throughout the study, researchers will carefully monitor participants' health, including blood tests and assessments of their symptoms, to understand how venglustat works and if it can be a helpful treatment option.

Key takeaways

This study explores a new drug, venglustat, for adult Gaucher disease Types 1 and 3.
It aims to see if venglustat is safe and effective, both alone and with Cerezyme.
Researchers will monitor organ size, blood counts, and brain function.
Participation could last from 45 days (Type 1) to up to 10 years (Type 3).
You'll have regular clinic visits for checks and medication.

Who may be eligible?

To join this study, you generally need to be an adult with a confirmed diagnosis of Gaucher disease, either Type 1 or Type 3. For Type 1, you should be between 18 and 40 years old, while for Type 3, you just need to be 18 or older.

If you have Type 3 Gaucher disease and want to take part in the treatment phases, you must have been receiving enzyme replacement therapy (like Cerezyme) for at least three years, be on a steady dose for at least six months, and your doctor must confirm you've been stable for at least one year. Your Gaucher disease symptoms, such as your blood counts and the size of your spleen and liver, also need to be within certain healthy ranges. You should not have had any recent bone crises or severe bone pain.

Importantly, if you are a woman who could become pregnant, you would need to have a negative pregnancy test before starting the study. These rules are in place to make sure that the study is safe for participants and that the results are clear and meaningful.

Quick self-check

Are you an adult (18 or older)?
Do you have a confirmed diagnosis of Gaucher disease Type 1 (aged 18-40) or Type 3?
If you have Type 3, have you been on stable enzyme replacement therapy (like Cerezyme) for over 3 years?
Are your current Gaucher disease symptoms (like blood counts, spleen/liver size) generally well-managed?
Are you able to attend regular clinic visits for assessments and medication?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

If you decide to take part, the study will have different durations depending on your type of Gaucher disease. For those with Type 1, your involvement would be short, lasting about 45 days. For Type 3 participants, the study could last for up to 10 years.

Throughout the study, you would have regular visits to the clinic for various assessments. These might include blood tests, measurements of your spleen and liver, and evaluations of your brain function, especially for Type 3. You would receive the study medication, venglustat, which would be either in combination with your current Cerezyme treatment or as a single medication, depending on the study part you're in. Researchers will also look at how your body handles the medicine.

Your participation involves taking the study medication as instructed and attending all scheduled appointments for check-ups and assessments. The medical team will be there to guide you through each step and answer any questions you may have.

Potential risks and benefits

Participating in a clinical trial means you're taking an active role in advancing medical knowledge, which could potentially benefit you and others with Gaucher disease in the future. You might receive a new medication that could help manage your condition, or help improve your symptoms. However, it's important to remember that new medications can have side effects that are not yet fully known. There's also no guarantee that the new treatment will work for you. You will be closely monitored by medical professionals throughout the study. Remember, your participation is completely voluntary, and you have the right to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (7)

Yale University School of Medicine Site Number : 840002
New Haven, United States
Baylor Institute of Metabolic Diseases Site Number : 840001
Dallas, United States
Lysosomal and Rare Disorders Research and Treatment Center, Inc Site Number : 840003
Fairfax, United States
Investigational Site Number : 276001
Mainz, Germany
Investigational Site Number : 392001
Minato-ku, Japan
Investigational Site Number : 826003
Cambridge, United Kingdom
Investigational Site Number : 826002
Salford, United Kingdom

Common questions

What is Gaucher disease?

Gaucher disease is a rare genetic condition where certain fatty substances build up in organs and bones because the body doesn't produce enough of a specific enzyme.

What is venglustat?

Venglustat is a new medication being studied for its potential to treat Gaucher disease by helping to reduce the build-up of these fatty substances.

What is Cerezyme?

Cerezyme is an existing medication that replaces the missing enzyme in people with Gaucher disease. It's a common treatment for the condition.

How long would I be in the study?

If you have Type 1 Gaucher disease, about 45 days. If you have Type 3, it could be up to 10 years, depending on the study part you're in.

What does 'biomarker' mean?

A biomarker is a measurable indicator of a biological state. In this study, it refers to specific substances in your body fluid that can tell us about your Gaucher disease activity.