Recruiting

NCT Number: NCT02890641

Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

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.

Recruiting

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Key information

Conditions

Drug-resistant Focal Epilepsies in Pediatric Population Brain Diseases Central Nervous System Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities Encephalitis Epilepsies, Partial Epilepsy Focal Cortical Dysplasia Genetic Diseases, Inborn Hamartoma Hemimegalencephaly Heredodegenerative Disorders, Nervous System Hypothalamic hamartomas Malformations of Cortical Development Malformations of Cortical Development, Group I Megalencephaly Musculoskeletal Abnormalities Musculoskeletal Diseases Neoplasms Neoplasms, Multiple Primary Neoplastic Syndromes, Hereditary Nervous System Diseases Nervous System Malformations Neurocutaneous Syndromes Neurodegenerative Diseases Neuroinflammatory Diseases Tuberous Sclerosis

Age range

3 month–25 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Fondation Ophtalmologique Adolphe de Rothschld

Paris, 75019, France

Location status: Recruiting

Location contact

Mathilde CHIPAUX, MD, PhD

PRINCIPAL_INVESTIGATOR

Mathilde Chipaux, MD, Phd

CONTACT

[email protected]

+33148036943

Stéphanie Baulac, PhD

SUB_INVESTIGATOR

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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

Genetic

Sampling of blood, frozen resected tissue, saliva, and cerebrospinal fluid (CSF); sequencing of paired blood-brain DNA samples, SEEG electrodes

Primary outcomes

qualitative genetic analysis

Time frame: baseline

Detection of brain somatic mutations and functional studies

Study contacts

Contact information is provided by the study sponsor or research team.

Amelie YAVCHITZ, MD

CONTACT

[email protected]

+33 1 48 03 64 54

Mathilde CHIPAUX, MD, PhD

CONTACT

[email protected]

+33 1 48 03 69 43

Sponsors and collaborators

Lead sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Network

Registry information

Acronym: GENEPHY

Important dates

Study start: 2015
Primary completion: 2026
Study completion: 2031
First posted: Sep 7, 2016
Registry last updated: Apr 17, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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