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RECRUITINGINTERVENTIONAL

Mos-FED (Mosaicism in Focal Epilepsy Cortical Dysplasia Tissue)

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

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

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.

Who May Be Eligible (Plain English)

Epilepsy in Focal Cortical Dysplasia Type IIA/B Key Who May Qualify: 1. Adult and Paediatric Patients (male and female) 2. A histologically proven diagnosis of FCDIIA/B or a suspected diagnosis of FCDIIA/B (on MRI/EEG and PET grounds) awaiting resective Epilepsy surgery. 3. Able to attend appointment/hospital and undergo sampling of serum and nasal swab 4. willing to sign a consent form Available Key Who Should NOT Join This Trial: 5. Any acute or chronic conditions that could limit the ability of the patient to participate in the study. 6. Refusal to give willing to sign a consent form. Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
Epilepsy in Focal Cortical Dysplasia Type IIA/B Key Inclusion Criteria: 1. Adult and Paediatric Patients (male and female) 2. A histologically proven diagnosis of FCDIIA/B or a suspected diagnosis of FCDIIA/B (on MRI/EEG and PET grounds) awaiting resective Epilepsy surgery. 3. Able to attend appointment/hospital and undergo sampling of serum and nasal swab 4. Informed Consent Available Key Exclusion Criteria: 5. Any acute or chronic conditions that could limit the ability of the patient to participate in the study. 6. Refusal to give informed consent.

Treatments Being Tested

GENETIC

Blood and nasal swab sampling

Genetic screening of DNA samples (blood, mucosal swab, brain tissue) from 60-100 patients with histologically confirmed diagnosis of FCDIIA/B identified from Epilepsy Surgery Databases.

Locations (1)

King's College Hospital
London, United Kingdom