Dissecting mTOR Pathway Mosaicism in FCDII-Harbouring Epileptic Brain and Peripheral Tissue.

Status: Recruiting
Location: See location...
Intervention Type: Genetic
Study Type: Interventional
Study Phase: Not Applicable
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. This study will look at FCD tissue removed during epilepsy surgery and aims to detect mutations in mTOR pathway genes in brain cells. Secondly, the investigators 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),the investigators will attempt to identify new genetic targets in FCD. The main outcome will be finding new causes of epilepsy with FCD and the development of new diagnostic and screening tools.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• Adult and Paediatric Patients (male and female)

• A histologically proven diagnosis of FCDIIA/B or a suspected diagnosis of FCDIIA/B (on MRI/EEG and PET grounds) awaiting resective Epilepsy surgery.

• Able to attend appointment/hospital and undergo sampling of serum and nasal swab

• Informed Consent Available

Locations
Other Locations
United Kingdom
King's College Hospital
RECRUITING
London
Contact Information
Primary
Laura Mantoan Ritter, MD PhD
laura.mantoan@kcl.ac.uk
00442032999000
Backup
Sylvini Lalnunhlimi
sylvine.1.lalnunhlimi@kcl.ac.uk
+44 (0) 20 7848 5162
Time Frame
Start Date: 2023-04-09
Estimated Completion Date: 2026-04-08
Participants
Target number of participants: 60
Treatments
Experimental: Patients with histologically confirmed FCDIIA/B undergoing or post Epilepsy Surgery
Genetic screening of DNA samples (blood, mucosal swab, brain tissue)
Sponsors
Leads: King's College Hospital NHS Trust
Collaborators: Danish Epilepsy Centre, King's College London

This content was sourced from clinicaltrials.gov

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