Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age3-25
SponsorFondation Ophtalmologique Adolphe de Rothschild
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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
Disqualifiers
refusal to participate in the study
contraindication to anaesthesia, to MRI or to surgery
no medical insurance coverage
Trial population
Children with focal drug-resistant epilepsy undergoing epilepsy surgery and their parents
Trial design
Design model
Family-based
Time perspective
Cross-sectional
Treatments tested in this trial
Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)
GeneticSampling of blood, frozen resected tissue, saliva, and cerebrospinal fluid (CSF); sequencing of paired blood-brain DNA samples, SEEG electrodes
Treatment groups
450 Participants
are divided into 1 treatment groupGroup A: Children undergoing epilepsy surgery at the Rothschild Foundation, Paris.1 intervention
Trial outcomes
Primary outcomes
1
qualitative genetic analysis
Detection of brain somatic mutations and functional studies
Time frame
baselineSponsors and contacts
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Source ClinicalTrials.gov