Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Recruiting
- Conditions
- Focal Cortical DysplasiaHemimegalencephalyRefractory Focal EpilepsyMild Malformation of Cortical Development With Oligodendroglial Hyperplasia in Epilepsy (MOGHE)Tuberous Sclerosis
- 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
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
- Primary Outcome Measures
Name Time Method qualitative genetic analysis baseline Detection of brain somatic mutations and functional studies
- Secondary Outcome Measures
Name Time Method
Related Research Topics
Explore scientific publications, clinical data analysis, treatment approaches, and expert-compiled information related to the mechanisms and outcomes of this trial. Click any topic for comprehensive research insights.
What molecular mechanisms underlie mTOR pathway mutations in focal cortical dysplasia and drug-resistant epilepsy?
How do brain somatic mutations in mTOR signaling genes compare to standard-of-care treatments in pediatric epilepsy outcomes?
Which biomarkers are most effective for identifying patients with hemimegalencephaly or MOGHE likely to benefit from genetic analysis in NCT02890641?
What adverse events are associated with mTOR pathway dysregulation in resected brain tissues from drug-resistant epilepsy cases?
Are there combination therapies or alternative molecular targets emerging for Tuberous Sclerosis Complex and related cortical malformations?
Trial Locations
- Locations (1)
Fondation Ophtalmologique Adolphe de Rothschld
🇫🇷Paris, France
Fondation Ophtalmologique Adolphe de Rothschld🇫🇷Paris, FranceAmélie Yavchitz, MDContact+33 1 48 03 64 54ayavchitz@for.parisGeorg Dorfmüller, MDPrincipal InvestigatorStéphanie Baulac, PhDSub Investigator