Extrait

Background and study aims Tuberous sclerosis (TSC) is a genetic disorder affecting approximately 1 in 10,000 people. It is characterised by the development of tumours in many organs and can lead to seizures, neuro-cognitive difficulties and behavioural and developmental disorders. These brain-related problems occur in the majority of those with TSC and were rated as being the most significant part of the disease by patients and families because of their everyday impact on education, employment, family and social life. The potential benefits of better treatment therefore include both a reduction in health care demands and wider benefits for patients and their carers. In the past it was thought that many of the problems caused by TSC might be entirely due to tumours in the brains of sufferers. However, recent research suggests that not only might gene mutation also play a major role but it is also possibly reversible. Studies have shown that certain drugs can be used to reduce the size of tumours. The main aim of this study is to see how the use of a drug named Everolimus affects recall memory and executive function of those with TSC over a period of 6 months. Who can participate? Participants need to be aged 16 to 60 years and have an IQ of more than 60. Both males and females can take part in the study. Only people with TSC will be able to take part. What does the study involve? Before starting, you will be asked to have some tests that help the doctor to decide if you can take part in the research. If the doctor thinks you can take part you will also be asked to come back to the hospital about every 2 weeks to begin with and then with longer gaps between visits as time goes on, for 9 months. The tests you may have as part of this research include: 1. The doctor will talk to you about how you feel. 2. The doctor will examine you. 3. You will have a test to find out how well your lungs work. 4. You will have a test to measure your heartbeat (Electrocardiogram (ECG)). 5. The doctor or nurse will take a blood sample from you. 6. You will be asked to provide a urine sample. 7. The research psychologist will do some memory and thinking tests with you. In this research some people taking part will receive the medicine we are testing and other people will receive a 'dummy medicine' that looks exactly the same but does not contain any active ingredients. Neither you nor the research doctor can choose whether you will get the study medicine or the dummy medicine and you will not know which one you are taking throughout the study. You will be asked to take tablets (2 for most people, but this may vary) once a day by mouth at about the same time of day. You may either take the tablets with a glass of water or apple juice or after a light meal. If you find this difficult you may instead dissolve the tablets in a glass of water and drink the mixture. If you have problems taking the medicine please tell the research doctor and the person who comes with you to the research clinic. Whilst taking part in the research you will be asked to avoid grapefruit, Seville oranges (including marmalade), and star fruit and the juices of these fruits as they can cause problems with the medicine. A drug called Everolimus will be compared against a placebo. One third of the participants will receive the placebo while two-thirds will receive the drug Everolimus but this is decided at random. What are the possible benefits and risks of participating? The potential benefits of taking part include both a reduction in health care demands and a reduction is the amount of neuro-cognitive difficulties experienced. Possible side effects of the medicine include mouth ulcers, feeling tired, weak and sick, being sick, skin rash, problems going to the toilet, not feeling very hungry, swelling in your legs, feeling hot, having an odd taste in your mouth, nose bleeds, pain in your arms and/or legs, shortness of breath, dry skin and headache. However, there will be a doctor will be able to help decide how best to deal with any side effect. Where is the study run from? The study is open to people from all over the UK but it will take place at University Hospital Wales, Cardiff. When is the study starting and how long is it expected to run for? The study is due to start recruiting participants at the end of December 2011. The trial will be recruiting participants for 12 months. Who is funding the study? The study is being run by Cardiff University but funded by pharmaceutical company Novartis. Who is the main contact? Professor Julian Sampson [email protected]

Critère d'inclusion

• Tuberous sclerosis

Liens

• ictrp
• isrctn