An observational study in Drug-resistant Focal Epilepsies in Pediatric Population, sponsored by Fondation Ophtalmologique Adolphe de Rothschild. Recruiting at 1 site in France. Open to participants aged 3 Months to 25 Years. Per ClinicalTrials.gov, last updated 2026-04-17.
Sponsored by Fondation Ophtalmologique Adolphe de Rothschild · Observational
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.
115 studies on the registry are indexed under Tuberous Sclerosis; 27 are open to participants now.
This study's planned enrollment of 450 is above the median of 150 across 37 observational studies indexed under Tuberous Sclerosis.
Browse Tuberous Sclerosis studies →Fondation Ophtalmologique Adolphe de Rothschild is the lead sponsor of 316 studies on the registry; 78 are open to participants now.
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Children with focal drug-resistant epilepsy undergoing epilepsy surgery and their parents
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Exclusion Criteria:
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Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Sequencing of paired blood-brain DNA samples, SEEG electrodes
Genetic: Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)
Sampling of blood, frozen resected tissue, saliva, and cerebrospinal fluid (CSF); sequencing of paired blood-brain DNA samples, SEEG electrodes
qualitative genetic analysis
Detection of brain somatic mutations and functional studies
Time frame: baseline
Started Dec 2015 (actual). Primary completion is estimated for Dec 2026, 132 months after the start.
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