EFC18362 - A Phase 3, multicenter, multinational, randomized, open-label, active-comparator study to evaluate the efficacy and safety of venglustat compared with Cerezyme in pediatric participants 2 to 11 years of age with Gaucher disease type 3 who have reached therapeutic goals with enzyme replacement therapy
Gaucher disease type 3 is a rare genetic condition where the body cannot properly break down certain fatty substances. This can cause the liver and spleen to swell, lower blood cell counts, and affect the nervous system. The usual treatment is Cerezyme, which replaces the missing enzyme through regular drips into a vein. This Phase 3 study is testing a new medicine called venglustat in children aged 2 to 11 who are already doing well on their current enzyme therapy. Researchers want to see if switching to venglustat works just as well at keeping the spleen and liver at a healthy size and maintaining good blood counts. They will also look at how the medicine affects daily movement and thinking skills. Children will be placed into groups to take either venglustat or continue with Cerezyme for at least 52 weeks.
At a glance
What is this study about?
Gaucher disease type 3 is a lifelong condition caused by a missing or faulty enzyme. Without enough of this enzyme, fatty materials build up inside organs such as the spleen, liver, and bones, and can also affect the brain and nervous system over time. At the moment, standard treatment involves regular intravenous infusions (drips) of enzyme replacement therapy, such as Cerezyme, to keep organs healthy.
While enzyme replacement therapy works well for the body, it requires frequent hospital or home drips and cannot easily reach the brain. Scientists are testing a medicine called venglustat. Instead of replacing the enzyme, venglustat works by reducing the amount of fatty material the body produces in the first place. Because it works differently, researchers hope it may offer an effective, convenient way to manage the condition.
This study involves children between 2 and 11 years old whose Gaucher disease is currently well controlled by enzyme therapy. Half the children will switch to venglustat, while the other half will continue with their standard Cerezyme infusions. By comparing both groups over 52 weeks, doctors can check whether venglustat is just as safe and effective at protecting vital organs and supporting normal childhood development.
Key takeaways
- The trial compares a new medicine (venglustat) to standard treatment (Cerezyme) in children aged 2 to 11 with Gaucher disease type 3.
- It aims to see if venglustat keeps the spleen, liver, and blood counts as healthy as standard therapy does.
- Participation lasts for at least 52 weeks and includes regular clinic visits, blood tests, and MRI scans.
- Only children whose condition is already stable on enzyme replacement therapy can take part.
- Joining is completely voluntary, and parents can withdraw their child at any time.
Who may be eligible?
This trial is designed specifically for children between the ages of 2 and 11 who have a confirmed diagnosis of Gaucher disease type 3. To join, a child must already be receiving enzyme replacement therapy (such as Cerezyme) and must have reached stable health goals, meaning their organs and blood counts are currently under good control.
Children may not be able to take part if they have other serious medical conditions, such as severe kidney, heart, or liver problems not related to Gaucher disease. They also cannot participate if they are unable to have routine MRI scans, or if they have had severe allergic reactions to the trial medicines in the past.
The study doctor will carry out detailed health checks and review your child's medical history before confirming whether joining the trial is safe and appropriate.
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.
- My child is between 2 and 11 years old.
- My child has been diagnosed with Gaucher disease type 3.
- My child is currently treated with enzyme replacement therapy (like Cerezyme).
- My child's condition is stable and meeting treatment goals.
- My child can safely undergo MRI scans and regular hospital checks.
What does participation involve?
Taking part in this study lasts for at least 52 weeks (one year). Children will be assigned by chance to either take the new medicine, venglustat, or continue receiving their standard Cerezyme infusions. Because this is an open-label study, you, your child, and the study doctor will know which treatment is being given.
Throughout the year, you will need to attend regular hospital visits. At these appointments, the study team will carry out safe, painless MRI scans to check the size of your child's liver and spleen. They will also take small blood samples to check blood cell counts, monitor medicine levels, and test general health.
The team will also assess your child's motor skills, movement, and daily adaptive behaviours using simple developmental activities and questionnaires. If your child is in the Cerezyme group, they will continue with their regular infusions as planned. A parent or guardian must accompany the child to all visits.
Potential risks and benefits
Locations (6)
- —UnverifiedHungary
- —UnverifiedItaly
- —UnverifiedFrance
- —UnverifiedFinland
- —UnverifiedGermany
- —UnverifiedSpain
Common questions
What is Gaucher disease type 3?
It is a rare inherited condition where a missing enzyme leads to a build-up of fatty chemicals in the spleen, liver, bones, and sometimes the nervous system.
What is the difference between Cerezyme and venglustat?
Cerezyme replaces the missing enzyme through a drip into a vein. Venglustat works differently by slowing down how much fatty substance the body makes.
Will I know which medicine my child is receiving?
Yes. This is an open-label study, which means you, your child, and the doctors will all know whether your child is taking venglustat or Cerezyme.
Can my child leave the study if we change our minds?
Yes. You can leave the study at any point. Your child will return to standard NHS care without any penalty or change in doctor support.
Will taking part cost anything?
No. The trial medicines and tests are provided free of charge, and trial sponsors often help cover travel expenses to and from hospital visits.
How to find out more
Always speak to your GP or specialist before deciding to take part in a study.
Discussion
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