Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3
This study is for people aged 12 and older who have Gaucher disease type 3 and have been on standard enzyme replacement therapy for at least three years. We're testing a new oral medicine called venglustat. It's being compared to the usual intravenous (IV) treatment, imiglucerase. The main goal is to see if venglustat can improve or keep stable the brain-related problems often seen in Gaucher disease type 3, while also keeping other symptoms of the disease under control. This is a Phase 3 study, meaning it's one of the final steps before a medicine might be approved for wider use. Participants will be randomly assigned to receive either the new oral drug or the existing IV treatment.
At a glance
What is this study about?
This study is designed for individuals, both teenagers aged 12 and older and adults, who are living with Gaucher disease type 3. Gaucher disease is a rare genetic condition where a certain fatty substance builds up in the body's cells and organs, which can cause many health problems. Type 3 is particularly challenging because it can also affect the brain and nervous system.
For many years, the main treatment for Gaucher disease has been Enzyme Replacement Therapy (ERT), often given through an intravenous drip. This study wants to find out if a new oral medicine, venglustat, could be another effective option, especially for managing the brain-related symptoms of Type 3. Participants will have been on ERT for at least three years already, and their condition will be stable when they join the study.
The study will compare venglustat, taken as a pill, with imiglucerase, which is the standard ERT given as an infusion every two weeks. We'll be looking carefully at how well each treatment helps with neurological symptoms (like eye movement issues) and how well it keeps other parts of the disease stable. Finding an effective oral treatment could make managing Gaucher disease type 3 much easier for patients, potentially reducing the need for regular hospital visits for infusions.
Key takeaways
- New oral medicine (venglustat) for Gaucher disease type 3.
- Compares oral venglustat to standard IV treatment (imiglucerase).
- Focuses on brain symptoms and overall disease stability.
- For adults and teenagers (12+) already on standard treatment.
- Study lasts at least two years with close medical monitoring.
Who may be eligible?
To be considered for this study, you need to be at least 12 years old and have a confirmed diagnosis of Gaucher disease type 3. You must have been receiving regular enzyme replacement therapy (like Cerezyme) for at least three years, and your treatment dose should have been steady for the last six months. Importantly, your doctor needs to agree that your overall health is stable and that your Gaucher disease is currently well-managed, with specific levels for your blood counts and organ sizes.
Also, your Gaucher disease type 3 needs to be affecting your brain in a specific way, shown by a certain score from a test called SARA, and you should have problems with your eye movements. If you've had seizures, they must be well-controlled with medication that won't interfere with the study drug. You also need to weigh at least 30 kg.
However, you won't be able to join if you need regular blood transfusions, have certain liver problems, or have other serious health conditions like heart disease that aren't related to your Gaucher disease. If you are pregnant, breastfeeding, or planning to become pregnant, you won't be able to take part. Male participants also shouldn't donate sperm during the study.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- Are you at least 12 years old and have Gaucher disease type 3?
- Have you been on regular enzyme replacement therapy for at least 3 years and are stable?
- Do you have specific problems with your eye movements commonly seen in Type 3?
- Are you free from severe liver, heart, or other serious health issues?
- Are you not pregnant, breastfeeding, or planning to become pregnant?
What does participation involve?
If you decide to take part, you'll first have a screening period that lasts up to 45 days. This is when doctors will check if you're suitable for the study. Once you're in, you'll be randomly assigned to one of two groups: one receiving the new medicine (venglustat) as a pill, and the other receiving the standard treatment (imiglucerase) as an intravenous infusion every two weeks. This main part of the study, where neither you nor your doctors will know which treatment you're getting, lasts for 52 weeks.
After this, there will be an optional 'open-label' period, where everyone will know which treatment they are receiving, and this will last for at least another 52 weeks. You will have regular visits to the clinic for check-ups, assessments, and to receive your medication or infusions. These visits will involve blood tests, physical exams, and tests to monitor your Gaucher disease and any effects on your brain. Once your treatment period ends, there will be a final follow-up phone call about a month later to check on how you're doing. The total time you could be involved in the study is at least two years.
Potential risks and benefits
Locations (22)
- Yale University School of Medicine - Investigational Site Number: 8400003Verified postcodeNew Haven, United States
- University of Iowa - Investigational Site Number: 8400002Verified postcodeIowa City, United States
- Texas Oncology - Medical City Dallas Site Number : 8400008Verified postcodeDallas, United States
- Lysosomal & Rare Disorders Research & Treatment Center, Inc - Investigational Site Number: 8400001Verified postcodeFairfax, United States
- Hospital de Ninos - Investigational Site Number: 320001Verified postcodeBuenos Aires, Argentina
- Children's Hospital Research Institute of Manitoba - Investigational Site Number: 1240001Verified postcodeWinnipeg, Canada
- National Taiwan University Hospital-Investigational Site Number: 1580001UnverifiedTaipei, China
- Peking Union Medical College Hospital - Investigational Site Number: 1560001Verified postcodeBeijing, China
- The First Affiliated Hospital - Investigational Site Number: 1560002Verified postcodeGuangzhou, China
- Xinhua Hospital - Investigational Site Number: 1560004Verified postcodeShanghai, China
- 47-87, boulevard de l'hôpital - Investigational Site Number: 2500003Verified postcodeParis, France
- Hopital Necker - Investigational Site Number: 2500001Verified postcodeParis, France
Common questions
What is Gaucher disease type 3?
Gaucher disease type 3 is a rare genetic condition where fatty substances build up, affecting many organs and also the brain and nervous system.
What is the new medicine being tested?
The new medicine is called venglustat, and it's an oral medication (a pill).
How is this new medicine different from current treatments?
Current main treatments for Gaucher disease are given through an IV drip, while venglustat is a pill, which could be more convenient.
Will I know which treatment I'm getting?
For the first 52 weeks, neither you nor your study doctors will know if you're getting the new pill or the standard IV treatment. This is to ensure fair results.
How long will I be in the study?
The main part of the study is 52 weeks, but there's an option to continue for at least another 52 weeks, so potentially two years or more.
How to find out more
Always speak to your GP or specialist before deciding to take part in a study.
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