The Mosaic Brain: a New Diagnostic Approach in Focal Epilepsies

NCT06602570 | Not Yet Recruiting

• 1 other identifier: 23BM09
• Study Type: observational
• Target: 40
• Locations: 0 countries
• Sites: N/A

Brief Summary

Overall, this observational cohort study aims to:

1. 1.Improve our understanding of the genetic architecture of childhood focal epilepsies.
2. 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. 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.

Conditions

Epilepsy Intractable; Epilepsy in Children

Outcome Measures

Primary Outcomes (1)

• Measure concordance of genetic results for brain mosaicism testing between brain tissue and alternative samples.

  24 months

Secondary Outcomes (4)

• Present and compare DNA quality metrics from the several samples types using different methodologies and select the methods yielding better sample quality.

  24 months

• Measure concordance between variant allele frequency (VAF) from brain tissue mosaic genetic testing and VAF calculated using alternative samples.

  24 months

• Present and compare mosaic genetic variability results between alternative samples (cell-free DNA and trace tissue DNA) and peripheral blood DNA.

  24 months

• Present descriptive statistics detailing changes to patient management and genetic counselling directly resulting from a genetic mosaic diagnosis.

  24 months

Eligibility Criteria

• Age: 6 Months - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

\- Children in the epilepsy surgery service at GOSH.

You may qualify if:

• 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.
• Under the age of 18.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Institute of Child Health: lead
• Great Ormond Street Hospital for Children NHS Foundation Trust: collaborator

MeSH Terms

Conditions

Drug Resistant Epilepsy

Condition Hierarchy (Ancestors)

Epilepsy; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases

Central Study Contacts

Flavia Matos Santo, MSc

CONTACT

020 7405 9200; flavia.matossanto@gosh.nhs.uk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 17, 2024
• First Posted: September 19, 2024
• Study Start: October 1, 2024
• Primary Completion (Estimated): September 1, 2026
• Study Completion (Estimated): September 1, 2026
• Last Updated: September 19, 2024

Record last verified: 2024-07