Mos-FED (Mosaicism in Focal Epilepsy Cortical Dysplasia Tissue)
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
AgeNot listed
SponsorKing's College Hospital NHS Trust
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.
Eligibility criteria
Qualifiers
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
Disqualifiers
Any acute or chronic conditions that could limit the ability of the patient to participate in the study.
Refusal to give informed consent.
Trial design
Treatments tested in this trial
- Blood and nasal swab sampling
Treatment groups
60 Participants
are divided into 1 treatment groupSponsors and collaborators
King's College Hospital NHS Trust
Lead sponsor
King's College London
Collaborator
Danish Epilepsy Centre
Collaborator
Source ClinicalTrials.gov