The Mosaic Brain: a New Diagnostic Approach in Focal Epilepsies
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age6-18
SponsorInstitute of Child Health
About this trial
Overall, this observational cohort study aims to:
1. Improve our understanding of the genetic architecture of childhood focal epilepsies. 2. Develop a liquid biopsy of cerebrospinal fluid (CSF) and assess feasibility to detect cerebral mosaicism using cell-free DNA (cfDNA) analysis and evaluate its performance against brain tissue on the panel testing. 3. Develop a methodology to use trace tissue from Stereoelectroencephalography (SEEG) DNA and assess feasibility to detect cerebral mosaicism and evaluate its performance against brain tissue on the panel testing.
3\. Validate the use of the liquid biopsy and SEEG trace tissue for use in the English National Health Service clinical services and share with other Genomic Laboratory Hubs.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Children in the epilepsy surgery pathway at Great Ormond Street Hospital (GOSH) with a clear or suspected MRI lesion.
All children undergoing SEEG at GOSH. Children for which consent was obtained from themselves or, if appropriate, from their legal representatives.
Children in whom there are no clinical contraindication to having a lumbar puncture procedure pre-surgery.
Both sexes.
Disqualifiers
Children that although undergoing epilepsy treatment or testing for an ischaemic lesion.
Children with malignant brain tumours.
Children in whom there are contraindications to performing a lumbar puncture procedure.
Trial population
\- Children in the epilepsy surgery service at GOSH.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Measure concordance of genetic results for brain mosaicism testing between brain tissue and alternative samples.
Time frame
24 monthsSecondary outcomes
1
Present and compare DNA quality metrics from the several samples types using different methodologies and select the methods yielding better sample quality.
Time frame
24 months2
Measure concordance between variant allele frequency (VAF) from brain tissue mosaic genetic testing and VAF calculated using alternative samples.
Time frame
24 months3
Present and compare mosaic genetic variability results between alternative samples (cell-free DNA and trace tissue DNA) and peripheral blood DNA.
Time frame
24 months4
Present descriptive statistics detailing changes to patient management and genetic counselling directly resulting from a genetic mosaic diagnosis.
Time frame
24 monthsLocations
Sponsors and contacts
Click on the lead sponsor to view all of their trials.
Institute of Child Health
Lead sponsor
Great Ormond Street Hospital for Children NHS Foundation Trust
Collaborator
Source ClinicalTrials.gov
This trial is not recruiting at the moment. You can still explore other options: