A Clinical Study to Evaluate the Safety and Efficacy of ETX101, an AAV9-Delivered Gene Therapy in Children With SCN1A-positive Dravet Syndrome
This study, called EXPEDITION, is for very young children in the UK with a specific type of Dravet Syndrome caused by a problem with the SCN1A gene. Doctors are testing a new treatment called ETX101, which is a gene therapy delivered using a harmless virus. The main goals are to find out if ETX101 is safe for these children and if it can help improve their condition, particularly by reducing seizures. The study will start with a small number of children and slowly increase the dose, carefully watching for any side effects and how well the treatment works. It's designed for children aged between 6 months and just under 4 years old.
At a glance
What is this study about?
Dravet Syndrome is a serious type of epilepsy that usually starts in the first year of life. It causes frequent, often long-lasting seizures and can also affect a child's development. This condition is often caused by a change, or 'mutation,' in a specific gene called SCN1A. This study is looking at a new treatment called ETX101, which is a 'gene therapy.' Gene therapies aim to correct the underlying problem by delivering new genetic material into the body.
Imagine your body's cells are like little machines, and genes are the instruction manuals for how those machines work. In Dravet Syndrome, the SCN1A gene's instruction manual has a mistake, so the cell machines don't work properly. ETX101 tries to give the cells a correct set of instructions for the SCN1A gene, hoping that this will help the cells function better and reduce the seizures. The treatment is delivered using a harmless, specially modified virus, like a microscopic delivery truck, to carry the corrective genetic material into the right cells.
This study is in its early stages (called Phase 1/2), which means doctors are still learning a lot about this new treatment. They need to find the right dose and make sure it's safe for children, while also carefully observing if it helps with their Dravet Syndrome symptoms.
Key takeaways
- It's a study testing a new gene therapy (ETX101) for young children with Dravet Syndrome.
- The child's Dravet Syndrome must be linked to a specific change in the SCN1A gene.
- It's an early-stage UK study (Phase 1/2) looking at safety and how well the treatment works.
- All children in the study will receive the active treatment, not a placebo.
- The study involves children aged 6 months to just under 4 years old.
Who may be eligible?
This study is looking for very specific children. To be considered, your child must have been diagnosed with Dravet Syndrome, or their doctor must strongly suspect they have it. A key requirement is that a genetic test must show a problem with their SCN1A gene, which is known to cause Dravet Syndrome. Your child also needs to have experienced their first seizure sometime between 3 months and 1 year and 3 months of age.
There are also some important points that would mean your child unfortunately couldn't join. For example, if they have other significant genetic problems or brain conditions not related to Dravet Syndrome. Children who have been seizure-free for a full month before the study starts, or who have already had gene therapy are also not able to participate. Also, certain medications your child might be taking could mean they can't join, especially some seizure medicines that are not often used in Dravet Syndrome.
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 a diagnosis of Dravet Syndrome, or does their doctor strongly suspect it?
- Has a genetic test confirmed a problem with my child's SCN1A gene?
- Did my child have their first seizure between 3 and 15 months of age?
- Is my child between 6 months and 47 months old?
- Is my child NOT seizure-free for a full month in the last 3 months?
- Has my child NOT had any other gene or cell therapies before?
What does participation involve?
If your child joins this study, they will receive the new treatment, ETX101. This study doesn't include a placebo group, meaning all children will get the active treatment. Since it's a dose-escalation study, a few children will start on a lower dose, and if it's safe, later children might receive a slightly higher dose, with careful monitoring.
Taking part will involve regular visits to the hospital for doctors to check your child's health, monitor their seizures, and see how they are reacting to the treatment. This will include physical exams, blood tests, and other assessments. The study will last for a significant period to closely follow your child’s development and the long-term effects of the therapy.
Potential risks and benefits
Locations (3)
- Queen Elizabeth HospitalVerified postcodeGlasgow, United Kingdom
- Great Ormond Street HospitalVerified postcodeLondon, United Kingdom
- Sheffield Children's HospitalVerified postcodeSheffield, United Kingdom
Common questions
What is gene therapy?
Gene therapy aims to fix faulty genes by introducing new, healthy genetic material into the body to help cells work correctly.
How is ETX101 given?
The information doesn't specify the exact method, but gene therapies can be given in various ways, often by infusion or injection.
Will my child get a placebo?
No, this study is 'open-label,' meaning all children in the study will receive the active treatment, ETX101.
How long will the study last?
The information doesn't state the exact duration, but early-stage gene therapy studies often involve long-term follow-up.
What age are the children in this study?
This study is for children aged between 6 months and just under 4 years old (47 months).
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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