Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

Study Purpose

Brain somatic mutations in genes belonging to the mTOR signaling pathway are a frequent cause of cortical malformations, including focal cortical dysplasia or hemimegalencephaly. The present study aims to search for brain somatic mutations in paired blood-brain samples and perform functional validation in children with drug-resistant focal epilepsy

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.

An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.

Searching Both is inclusive of interventional and observational studies.

Eligible Ages 3 Months - 25 Years
Gender All
More Inclusion & Exclusion Criteria

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

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.


Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

Fondation Ophtalmologique Adolphe de Rothschild
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

Mathilde CHIPAUX, MDStephanie Boulac, PhD
Principal Investigator Affiliation Fondation A de RothschildInstitut du Cerveau et de la Moelle Epinière
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Overall Status Recruiting
Countries France

The disease, disorder, syndrome, illness, or injury that is being studied.

Refractory Focal Epilepsy, Focal Cortical Dysplasia, Hemimegalencephaly, Tuberous Sclerosis, Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia in Epilepsy (MOGHE)
Study Website: View Trial Website
Arms & Interventions


: Children undergoing epilepsy surgery at the Rothschild Foundation, Paris.

Sequencing of paired blood-brain DNA samples


Genetic: - Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)

Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)

Contact a Trial Team

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International Sites

Paris, France




Fondation Ophtalmologique Adolphe de Rothschld

Paris, , 75019

Site Contact

Amélie Yavchitz, MD

[email protected]

+33 1 48 03 64 54

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