Tuberous Sclerosis Clinical Trial
— GENEPHYBrain somatic mutations in genes belonging to the mTOR signaling pathway are a frequent cause of cortical malformations, including focal cortical dysplasia or hemimegalencephaly. The present study aims to search for brain somatic mutations in paired blood-brain samples and perform functional validation in children with drug-resistant focal epilepsy
| Status | Recruiting |
| Enrollment | 450 |
| Est. completion date | December 2030 |
| Est. primary completion date | December 2030 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | 3 Months to 25 Years |
| Eligibility | 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 |
| Country | Name | City | State |
|---|---|---|---|
| France | Fondation Ophtalmologique Adolphe de Rothschld | Paris |
| Lead Sponsor | Collaborator |
|---|---|
| Fondation Ophtalmologique Adolphe de Rothschild |
France,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | qualitative genetic analysis | Detection of brain somatic mutations and functional studies | baseline |
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