Ongoing, recruitingTherapeutic confirmatory (Phase III)Interventional

Open label, two cohort (with and without imiglucerase), multicenter study to evaluate pharmacokinetics, safety, and efficacy of eliglustat in pediatric patients with Gaucher disease type 1 and type 3

This study aims to understand a new medicine, eliglustat, for children living with Gaucher disease, specifically types 1 and 3. Researchers want to see how the medicine acts in their bodies, how much is needed, and if it's safe. They will also look at how well eliglustat works to improve symptoms, sometimes given with another medicine called Cerezyme. Patients will be divided into two groups: one receiving eliglustat alone and another receiving eliglustat plus Cerezyme. The study will measure things like blood levels of the medicine, potential side effects, and changes in health markers such as blood counts, liver and spleen size, and overall quality of life. This is a Phase 3 study, meaning it's a key step to confirm the medicine's effectiveness and safety before it can be widely used.

At a glance

Status

Ongoing, recruiting

Phase

Therapeutic confirmatory (Phase III)

Sponsor

Genzyme Corp.

Enrolment target

Start

26 Apr 2024

Gaucher's disease type I Gaucher's disease type III

What is this study about?

This study is designed to help us learn more about a new medicine called eliglustat, specifically for children who have Gaucher disease types 1 or 3. Gaucher disease is a rare condition that can affect many parts of the body, including the liver, spleen, and bones. There are already treatments available, but scientists are always looking for new and better ways to help patients.

The main goals of this study are to find out two key things about eliglustat: first, how the body handles the medicine – how it's absorbed, how it's used, and how it leaves the body. This helps doctors understand the best way to give the medicine. Second, the study wants to check if the medicine is safe for children to take and if it causes any unwanted side effects. They will also be looking to see if eliglustat helps improve some of the health problems caused by Gaucher disease.

To do this, the study will involve two groups of children. One group will receive eliglustat on its own, while the other group will receive eliglustat along with another existing treatment called Cerezyme. By comparing these groups, researchers hope to get a clear picture of how well eliglustat works, both alone and when combined with another treatment, and if it can make a real difference in the lives of children with Gaucher disease.

Key takeaways

This study is testing a new medicine (eliglustat) for children with Gaucher disease.
It aims to understand how the medicine works in the body and if it's safe and effective.
Children will receive eliglustat, sometimes with another medicine (Cerezyme).
Regular health checks and blood tests will be part of the study.
The study includes children of all ages with Gaucher disease types 1 or 3.
Participation is voluntary, and you can withdraw at any time.

Who may be eligible?

Children of any age with Gaucher disease type 1 or type 3 may be able to join this study. Both boys and girls can take part. The study team will need to check your child's specific medical history and current health to see if it's the right fit for them.

It's important to remember that not everyone with Gaucher disease will be able to join. There are often specific medical criteria that need to be met to ensure the study is safe and that the results can be properly understood. The study doctors will carefully review all the details with you.

If you think your child might be a good fit, the first step is to talk to your child's doctor or the study team. They can explain all the requirements and help you understand if this study could be an option for your family.

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.

Does my child have Gaucher disease type 1 or type 3?
Is my child currently being treated for Gaucher disease?
Are we able to attend regular clinic visits?
Am I comfortable with my child having blood tests and other assessments?
Am I willing to consider a new or combined medication regimen for my child?

Answer every question to see your result.

What does participation involve?

If your child joins this study, they will receive either the study medicine, eliglustat, or eliglustat along with another medicine called Cerezyme. These medicines will be given for a specific period, and the medical team will explain exactly how and when they should be taken or given.

Throughout the study, your child will have regular visits to the clinic. During these visits, the doctors and nurses will perform various health checks. This will include blood tests to see how the study medicine is working in their body and to monitor for any side effects. They might also measure the size of your child's liver and spleen, and check their blood counts.

Your child's overall health and well-being will also be monitored using special questionnaires designed for children, to see how the treatment might be affecting their quality of life. The study duration will be explained to you, as will how often visits are needed and what follow-up care will involve after the main treatment period.

Potential risks and benefits

Taking part in any medical study has potential benefits and risks. Your child might benefit from receiving a new medicine that could improve their symptoms or health outcomes related to Gaucher disease. However, as with any medicine, eliglustat could cause side effects, which the study team will carefully monitor. There's also the chance that the medicine may not work for your child. It's very important to understand that your child can leave the study at any time, for any reason, without it affecting their usual medical care. The research team will discuss all potential risks and benefits in detail before any decision is made.

Locations (3)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

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Unverified
Spain
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Unverified
France
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Unverified
Italy

Common questions

What is Gaucher disease?

Gaucher disease is a rare inherited condition that can cause problems with the liver, spleen, bones, and blood. It happens when certain fatty substances build up in the body.

What is eliglustat?

Eliglustat is a new medicine being studied. It aims to reduce the build-up of the fatty substances that cause Gaucher disease symptoms.

Will my child definitely get eliglustat?

Yes, all children in this study will receive eliglustat. Some will get it alone, and others will get it combined with another medicine called Cerezyme.

What does 'Phase 3 study' mean?

Phase 3 means this is one of the final stages of testing a new medicine. It means the medicine has already been studied for safety and basic effectiveness in smaller groups of people.

Will this study hurt my child?

The study team will do everything to ensure your child's safety and comfort. There may be some discomfort from things like blood tests, but they will explain everything clearly, and you can ask questions at any time.