Open, randomized, IInd phase clinical study evaluating the safety and efficacy of rapamycin in the treatment of drug-resistant epilepsy in children with rare and ultra rare diseases of the central nervous system associated with the activation of the mTOR pathway : BraimTOR-NEURO
This research study, called BraimTOR-NEURO, is looking at a medicine called rapamycin (also known as Rapamune) for children who have epilepsy that hasn't responded well to other treatments. Specifically, it's for children with rare brain conditions where a certain body process, called the mTOR pathway, is overactive. The main goals are to find out how safe rapamycin is and if it can reduce the number of seizures by half or more. Researchers will also look at how the medicine affects a child's overall quality of life. This is a Phase II study, meaning we're still in the early stages of testing this treatment.
At a glance
What is this study about?
This study, called BraimTOR-NEURO, is looking into a medication called rapamycin for children with epilepsy that is very difficult to control with standard treatments. This includes children with rare brain conditions like focal cortical dysplasia and LEATS, where a specific process inside the body's cells, known as the mTOR pathway, is more active than it should be. Scientists believe that calming down this mTOR pathway might help reduce seizures.
The main aims of this study are twofold. Firstly, we want to understand how safe rapamycin is for these children. We will be carefully monitoring for any unwanted side effects and how often they occur. Secondly, we want to see if rapamycin is effective in reducing the number of seizures. We are particularly interested in whether at least half of the children in the study experience a 50% or greater reduction in their seizures.
Beyond safety and seizure reduction, the study will also look at other important aspects. This includes how the treatment affects blood tests, if the benefits last for a reasonable period, and whether the medicine helps improve the overall quality of life for the children and their families. This research is important because it could offer a new treatment option for children living with challenging forms of epilepsy.
Key takeaways
- Tests rapamycin for drug-resistant epilepsy in children.
- Focuses on rare brain conditions linked to the mTOR pathway.
- Aims to check safety and reduce seizures by 50% or more.
- Involves regular monitoring and follow-up.
- Could offer a new treatment option for specific epilepsies.
Who may be eligible?
This study is open to both boys and girls of any age who have epilepsy that hasn't improved with other medicines. They must also have a rare brain condition linked to a specific body process called the mTOR pathway. This includes conditions like focal cortical dysplasia and LEATS.
However, not everyone with epilepsy will be able to join. Your child's doctor would need to confirm that their specific type of epilepsy is connected to this mTOR pathway and that other treatments haven't worked well for them. This study is specifically looking at children with these particular kinds of difficult-to-treat epilepsy.
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 your child have epilepsy that has been difficult to treat with other medicines?
- Has a doctor told you that your child has a rare brain condition like focal cortical dysplasia or LEATS?
- Is your child's epilepsy thought to be linked to the 'mTOR pathway'?
- Are you able to attend regular clinic visits for monitoring?
What does participation involve?
If your child takes part in this study, they would receive the medicine rapamycin, which is given as a 1 mg/mL oral solution (meaning it's a liquid taken by mouth). They would be monitored very closely by the medical team throughout their time in the study. This would involve regular visits to the clinic for check-ups, blood tests, and to record any changes in their seizures or any side effects they might experience. The total duration of the study involves a treatment period and a follow-up period to make sure the researchers have a full picture of the medicine's effects. The exact number of visits and the full length of participation would be explained in detail by the study team.
Potential risks and benefits
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Common questions
What is rapamycin?
Rapamycin is a medicine that's being tested to see if it can help reduce seizures in children with specific types of epilepsy.
What does 'mTOR pathway' mean?
It's a natural process inside our body's cells. In some rare brain conditions, this pathway can be overactive, which might contribute to epilepsy.
What is a 'Phase II' study?
Phase II means it's an early stage of testing where we look more closely at how safe the medicine is and if it has a positive effect, after initial safety tests.
Will my child definitely get the medicine?
Yes, all participants in this study will receive the active medicine rapamycin, as it's not comparing it to a dummy treatment (placebo).
What are 'adverse reactions'?
These are simply any unwanted or unexpected effects that might happen while taking the medicine. They are carefully watched and recorded.
How to find out more
Always speak to your GP or specialist before deciding to take part in a study.
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