We'd like your feedback
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Episodic and paroxysmal disorders
This information is provided directly by researchers, and we recognise that it isn't always easy to understand. We are working with researchers to improve the accessibility of this information. In some summaries, you may come across links to external websites. These websites will have more information to help you better understand the study.
Focal cortical dysplasia (FCD) is a malformation of brain development, the most common cause of drug-resistant epilepsy and often caused by mutations in mammalian target of rapamycin (mTOR) pathway genes. Patients with FCD develop drug-resistant seizures. Our study will look at FCD tissue removed during epilepsy surgery and aims to detect mutations in mTOR pathway genes in brain cells. Secondly, we will establish if evidence of mutations found in brain cells can also be detected as circulating free DNA (cfDNA) in blood. By looking at which genes are made into proteins in individual cells found in epilepsy surgical tissue (single cell expression profiling), we will attempt to identify new genetic targets in FCD.
Patient representatives (ER UK Shape Network) have already been involved in the design of the trial, and will form an advisory panel to guide research governance and peer recruitment. This research will identify novel mutations/pathways leading to FCD, novel methods to test for mTOR mutations and develop new screening tools by performing a simple blood test or nasal swab. It will quickly answer if mTOR inhibitor treatment results in a useful seizure frequency reduction in drug-resistant patients.
Results from this study will allow us to set up a multi-centre trial to confirm our findings and may become applicable to refractory focal epilepsy patients in the medium term.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
Type: Other;
You can take part if:
You may not be able to take part if:
1. Any acute or chronic conditions that could limit the ability of the patient to participate in the study. 2. Refusal to give informed consent
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
The study is sponsored by KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST and funded by Epilepsy Research Institute UK .
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Read full details
for Trial ID: CPMS 54470
You can print or share the study information with your GP/healthcare provider or contact the research team directly.
