Mosaicism in Focal Epilepsy Cortical Dysplasia Tissue- Version 1.0
Research type
Research Study
Full title
Dissecting mTOR Pathway Mosaicism in FCDII-Harbouring Epileptic Brain and Peripheral Tissue.
IRAS ID
303113
Contact name
Laura Mantoan Ritter
Contact email
Sponsor organisation
King's College Hospital NHs Foundation Trust
Clinicaltrials.gov Identifier
Clinicaltrials.gov Identifier
NA, NA
Duration of Study in the UK
2 years, 0 months, 0 days
Research summary
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.REC name
Wales REC 2
REC reference
22/WA/0326
Date of REC Opinion
3 Jan 2023
REC opinion
Further Information Favourable Opinion