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

NCT06053671 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 60

Last updated 2024-10-23

No results posted yet for this study

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.

Conditions

Interventions

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.

Sponsors & Collaborators

  • King's College London

    collaborator OTHER

  • Danish Epilepsy Centre

    collaborator UNKNOWN

  • King's College Hospital NHS Trust

    lead OTHER

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-04-09
Primary Completion
2025-04-08
Completion
2026-04-08

Countries

  • United Kingdom

Study Locations

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Diseases
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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06053671 on ClinicalTrials.gov