Genetic and electrophysiologic analysis in children with drug-resistant epilepsy
Official title: Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Run by Fondation Ophtalmologique Adolphe de Rothschild · NCT02890641 · Data updated 2026-11-12
This study is testing if certain genetic changes in the brain are linked to drug-resistant epilepsy in children to help us understand why these conditions happen.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 3 Months to 25 Years |
| Sex | All |
| Enrollment | 450 (estimated) |
| Sponsor | Fondation Ophtalmologique Adolphe de Rothschild Research network |
| Locations | 1 site (Paris) |
| Status | Recruiting |
| Started | December 17, 2015 |
| Main results expected | December 2026 |
| Study ends | December 2031 |
| Registry record updated | April 17, 2026 |
| Trial ID | NCT02890641 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include children diagnosed with focal drug-resistant epilepsy and specific associated conditions such as focal cortical dysplasia or tuberous sclerosis.
✕Probably not a fit
Patients who do not have drug-resistant focal epilepsy or those with contraindications to anesthesia or MRI may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study investigates the presence of brain somatic mutations in children suffering from drug-resistant focal epilepsy, specifically focusing on conditions like focal cortical dysplasia and hemimegalencephaly. By analyzing paired blood and brain tissue samples, the study aims to identify mutations in the mTOR signaling pathway that may contribute to these cortical malformations. The research will also include functional validation of these mutations to better understand their role in epilepsy. The study is designed to enhance our understanding of the genetic underpinnings of these conditions.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic and therapeutic strategies for children with refractory focal epilepsy.
How similar studies have gone: Other studies have shown success in identifying genetic mutations related to epilepsy, suggesting that this approach may yield valuable insights.
Who can join: the full rules
Show full inclusion / exclusion criteria
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
Where it's running
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Fondation Ophtalmologique Adolphe de Rothschld
Paris, France Recruiting
Study contacts
- Principal investigator: Mathilde CHIPAUX, MD, PhD — Fondation A de Rothschild
- Study coordinator: Amelie YAVCHITZ, MD
- Email: ayavchitz@for.paris
- Phone: +33 1 48 03 64 54
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.