Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies (GENEPHY)

April 14, 2026 updated by: Fondation Ophtalmologique Adolphe de Rothschild

Brain somatic mutations are increasingly recognized as a major cause of focal epilepsies. These include mTOR pathway mutations underlying cortical malformations such as focal cortical dysplasia and hemimegalencephaly, and SLC35A2 mutations in MOGHE, and activating variants in the SHH pathway in hypothalamic hamartomas.

This study aims to identify brain somatic mutations using paired blood-brain samples and trace DNA from stereo-EEG electrodes, and to perform functional validation of candidate variants in children with drug-resistant focal epilepsy.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

450

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

  • Name: Mathilde CHIPAUX, MD, PhD
  • Phone Number: +33 1 48 03 69 43
  • Email: mchipaux@for.paris

Study Locations

  • France
      • Paris, France, 75019
        • Recruiting
        • Fondation Ophtalmologique Adolphe de Rothschld
        • Sub-Investigator:
          • Stéphanie Baulac, PhD
        • Contact:
        • Principal Investigator:
          • Mathilde CHIPAUX, MD, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 years to 21 years (Child, Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Children with focal drug-resistant epilepsy undergoing epilepsy surgery and their parents

Description

Inclusion Criteria:

  • Children with focal drug-resistant epilepsy including Focal Cortical Dysplasia, Hemimegalencephaly, Tuberous Sclerosis, Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), Hypothalamic Hamartomas, Sturge-Weber syndrome, Rasmussen encephalitis, gliomas
  • Their parents who have signed informed consent 1) for their child's participation (for parents) and 2) for themselves
  • Social security coverage or foreign regime recognized in France

Exclusion Criteria:

  • refusal to participate in the study
  • contraindication to anaesthesia, to MRI or to surgery
  • no medical insurance coverage

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Children undergoing epilepsy surgery at the Rothschild Foundation, Paris.
Sequencing of paired blood-brain DNA samples, SEEG electrodes
Genetic: Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)
Sampling of blood, frozen resected tissue, saliva, and cerebrospinal fluid (CSF); sequencing of paired blood-brain DNA samples, SEEG electrodes

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
qualitative genetic analysis
Time Frame: baseline
Detection of brain somatic mutations and functional studies
baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Investigators

  • Principal Investigator: Mathilde CHIPAUX, MD, PhD, Fondation A de Rothschild
  • Study Chair: Stéphanie BAULAC, PhD, Institut du Cerveau

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 17, 2015

Primary Completion (Estimated)

December 1, 2026

Study Completion (Estimated)

December 1, 2031

Study Registration Dates

First Submitted

August 29, 2016

First Submitted That Met QC Criteria

August 31, 2016

First Posted (Estimated)

September 7, 2016

Study Record Updates

Last Update Posted (Actual)

April 17, 2026

Last Update Submitted That Met QC Criteria

April 14, 2026

Last Verified

April 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GDR_2015_15

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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