Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

Recruiting now

Conditions studied: Drug-resistant Focal Epilepsies in Pediatric Population

In brief

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.

Key facts

Study ID

NCT02890641

Run by

Fondation Ophtalmologique Adolphe de Rothschild

People needed

450

Starts

2015-12-17

Expected to finish

2031-12-01

Last updated by the study team

2026-04-17

Who can join

Age: 0 and older, up to 25. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• refusal to participate in the study
• contraindication to anaesthesia, to MRI or to surgery
• no medical insurance coverage

Where it is running

• Fondation Ophtalmologique Adolphe de Rothschld — Paris, France (enrolling)

Full record on ClinicalTrials.gov

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