NCT02890641Recruiting
Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Source: ClinicalTrials.gov · Last updated 17 Apr 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 450 (estimated)
- First submitted
- 29 Aug 2016
- Start date
- 17 Dec 2015
- Primary completion date
- 31 Dec 2026
- Lead sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
- Diseases
- Epilepsy
- NCT number
- NCT02890641
What you commit to
- Study type: Observational
- Planned participants: 450
- From 17 Dec 2015 to the primary completion date, 31 Dec 2026
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- contraindication to anaesthesia, to MRI or to surgery
Other
- refusal to participate in the study
- no medical insurance coverage
Who the study is looking for
- 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
Age in the registry: 3 months to 25 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Fondation Ophtalmologique Adolphe de Rothschld Coordinator of this site? Confirm its status | Paris | France | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.