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The Mosaic Brain: a New Diagnostic Approach in Focal Epilepsies

NCT06602570 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 40

Last updated 2024-09-19

No results posted yet for this study

Summary

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.

Conditions

  • Epilepsy Intractable
  • Epilepsy in Children

Sponsors & Collaborators

  • Great Ormond Street Hospital for Children NHS Foundation Trust

    collaborator OTHER

  • Institute of Child Health

    lead OTHER

Eligibility

Min Age
6 Months
Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-10-01
Primary Completion
2026-09-01
Completion
2026-09-01

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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 NCT06602570 on ClinicalTrials.gov