Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

Recruiting

• Conditions: Focal Cortical Dysplasia; Hemimegalencephaly; Refractory Focal Epilepsy; Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia in Epilepsy (MOGHE); Tuberous Sclerosis
• Interventions: Genetic: Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)

• Registration Number: NCT02890641
• Lead Sponsor: Fondation Ophtalmologique Adolphe de Rothschild

Brief Summary

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

Detailed Description

Not available

Study Timeline

• Study Start: 2015-12-12
• Study First Submitted: 2016-08-29
• Study First Submitted QC: 2016-08-31
• Study First Posted: 2016-09-07
• Status Verified: 2023-12
• Last Update Submitted: 2023-12-12
• Last Update Posted: 2023-12-13
• Primary Completion: 2030-12
• Study Completion: 2030-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 450

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Children undergoing epilepsy surgery at the Rothschild Foundation, Paris.	Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)	Sequencing of paired blood-brain DNA samples

Primary Outcome Measures

Name	Time	Method
qualitative genetic analysis	baseline	Detection of brain somatic mutations and functional studies

Trial Locations

Locations (1)

Fondation Ophtalmologique Adolphe de Rothschld; 🇫🇷 Paris, France