Health TrialsbyHealthPanel

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

ConditionsFocal Cortical DysplasiaEpilepsy
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

This trial does not accept healthy volunteers

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

Design model

Single group

Treatments tested in this trial

  • Blood and nasal swab sampling

    Genetic

    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.

Treatment groups

60 Participants
are divided into 1 treatment group
Group A: Patients with histologically confirmed FCDIIA/B undergoing or post Epilepsy SurgeryExperimental treatment 1 intervention

Trial outcomes

Primary outcomes

1

somatic mosaicism

This study will measure and report the rate of somatic mosaicism for mTOR pathway genes in resected brain tissue and peripheral blood and nasal mucosal cells from patients with FCDIIA/B assessed by panel genetic sequencing of genomic and free circulating DNA .

Time frame
2 years
2

single cell expression profiling

This study will measure and report novel FCD causing mutations through single cell expression profiling from resected fresh frozen tissue.

Time frame
2 years
3

phosphorylated targets

This study will measure phosphorylation of upstream and downstream mTOR pathway components by immunohistochemistry and Western blot in human FCDII tissue.

Time frame
2 years

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

King's College Hospital NHS Trust

Lead sponsor

King's College London

Collaborator

Danish Epilepsy Centre

Collaborator

Source ClinicalTrials.gov
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