Actively Recruiting
Mos-FED (Mosaicism in Focal Epilepsy Cortical Dysplasia Tissue)
Led by King's College Hospital NHS Trust · Updated on 2024-10-23
60
Participants Needed
1
Research Sites
156 weeks
Total Duration
On this page
Sponsors
K
King's College Hospital NHS Trust
Lead Sponsor
K
King's College London
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Mos-FED (Mosaicism in Focal Epilepsy Cortical Dysplasia Tissue)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Adult and pediatric patients (male and female)
- Histologically proven or suspected diagnosis of focal cortical dysplasia type IIA/B based on MRI, EEG, and PET
- Awaiting resective epilepsy surgery
- Able to attend hospital appointments and undergo blood and nasal swab sampling
- Informed consent available
You will not qualify if you...
- Presence of any acute or chronic conditions that limit ability to participate
- Refusal to give informed consent
AI-Screening
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Trial Site Locations
Total: 1 location
1
King's College Hospital
London, United Kingdom
Actively Recruiting
Research Team
L
Laura Mantoan Ritter, MD PhD
CONTACT
S
Sylvini Lalnunhlimi
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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