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

Study acronym: MosFED
StatusRecruiting
PhaseNot applicable
Started
View on ClinicalTrials.gov ↗
Record status
This record was last updated October 23, 2024 (before its estimated April 8, 2025 completion). Its status may not reflect the trial's current state.

Record History

  1. Re-verified, no change to tracked fieldsv2
  2. Study First Submitted
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.
Trial Details
NCT Number NCT06053671
Lead Sponsor King's College Hospital NHS Trust
Collaborators: King's College London, Danish Epilepsy Centre
Conditions
(from sponsor)		 Focal Cortical Dysplasia, Epilepsy
Related terms Epilepsy, Focal Cortical Dysplasia
Enrollment 60 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov