A randomised, double blind, placebo-controlled study of RAD001 (Everolimus) in the treatment of neurocognitive problems in tuberous sclerosis
Tuberous sclerosis is a rare genetic condition that can cause non-cancerous growths in the body. Many people living with it experience difficulties with their memory, attention, and planning. These challenges can have a major impact on school, work, and daily life. Researchers at Cardiff University are studying whether a medicine named everolimus can improve these thinking and memory skills. In this trial, participants take tablets once a day for six months. Two in every three people will receive everolimus, while one in three will receive a dummy pill (placebo) to allow a fair comparison. The trial lasts about nine months and involves regular visits to the University Hospital of Wales in Cardiff. During these visits, doctors check your overall health and a psychologist carries out memory and problem-solving puzzles to measure any changes.
At a glance
What is this study about?
Tuberous sclerosis is a lifelong genetic condition that affects roughly 1 in every 10,000 people. It causes harmless growths to form in different organs, including the brain. For many individuals and their families, the most challenging part of the condition is how it affects the brain. It can cause seizures, learning difficulties, and trouble with memory, planning, and organising daily tasks.
In the past, experts thought these thinking difficulties were simply caused by physical growths in the brain. However, recent medical discoveries show that the genetic changes themselves might alter how brain cells communicate with each other. Scientists believe that with the right treatment, some of these thinking and memory problems might actually be improved or reversed.
This study tests a medicine called everolimus. While everolimus is already known to help shrink certain growths, researchers want to see if it can also boost memory and problem-solving abilities over a six-month period. If the trial is successful, it could open the door to new treatments that greatly improve independence and quality of life for people living with tuberous sclerosis.
Key takeaways
- Tests whether everolimus can improve memory and thinking skills in tuberous sclerosis.
- Open to UK adults and teenagers aged 16 to 60 with stable seizures.
- Two out of three participants receive the active medicine; one in three receives a dummy pill.
- Requires daily tablets for six months and hospital visits to Cardiff over nine months.
- Participation is entirely voluntary and you can withdraw at any time.
Who may be eligible?
This study is open to men and women aged between 16 and 60 who have a confirmed diagnosis of tuberous sclerosis. Because the study focuses on specific memory and planning skills, participants need an IQ score of 60 or higher and must show measurable difficulties on standard memory and thinking tests.
To take part safely, your seizures must be stable, meaning your epilepsy medication types have not needed to change in the past six months. You also need to have healthy liver and kidney function, as shown by standard blood and urine tests.
You cannot take part if you have previously taken medicines similar to everolimus (known as mTOR inhibitors). Because the study medicine can harm an unborn baby, women who could become pregnant must have a negative pregnancy test and agree to use two reliable forms of contraception, as must sexually active men.
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.
- I am between 16 and 60 years old.
- I have a confirmed diagnosis of tuberous sclerosis.
- My epilepsy medicines have not changed in type for at least six months (or I do not have seizures).
- I experience noticeable difficulties with memory, focus, or planning.
- I am able and willing to travel to the hospital in Cardiff for regular appointments.
- I have not previously taken everolimus or similar medicines.
What does participation involve?
If you take part, your participation will last around nine months. It begins with screening tests to confirm the trial is safe and suitable for you. You will then need to visit the University Hospital of Wales in Cardiff. At first, visits take place every two weeks, but they become less frequent as the study progresses.
During hospital visits, the team will check your overall wellbeing. Tests include physical examinations, blood and urine samples, a tracing of your heart rhythm (an ECG), a simple breathing test, and memory and thinking tasks with a psychologist.
You will take study tablets once a day for six months at roughly the same time. You can swallow them with water or apple juice, or dissolve them in water if swallowing is difficult. To keep the test fair, you will be randomly assigned to receive either everolimus or an identical-looking dummy pill (placebo). Two-thirds of participants receive everolimus. While on the study, you must avoid grapefruit, Seville oranges (including marmalade), and star fruit, as these affect how the body breaks down the medicine.
Potential risks and benefits
Locations (1)
- Cardiff UniversityUnverifiedCardiff, Wales
Common questions
Will I definitely receive the real medicine?
Not necessarily. This is a randomised trial where two out of three people receive everolimus and one out of three receives a dummy pill (placebo). A computer decides this at random, and neither you nor the doctors will know which one you are taking.
Do I have to travel to Cardiff to take part?
Yes. While the study welcomes participants from anywhere in the UK, all study appointments and tests take place at the University Hospital of Wales in Cardiff.
What do the memory tests involve?
A research psychologist will guide you through gentle problem-solving tasks, word games, and memory exercises. They are designed to measure your recall and planning skills, not to catch you out.
Why do I need to avoid marmalade and grapefruit?
Grapefruit, Seville oranges (used in marmalade), and star fruit contain natural compounds that change how your body absorbs everolimus, which could make side effects more likely.
Can I carry on taking my normal epilepsy tablets?
Yes, as long as your seizure treatment has been stable without any changes to the types of medication you take for at least six months before joining.
How to find out more
Cheney Drew
Always speak to your GP or specialist before deciding to take part in a study.
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