ClinicalTrials.gov record NCT02890641
Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
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AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This observational study looks for brain somatic mutations in children with drug‑resistant focal epilepsy and performs laboratory validation of candidate variants. It collects paired blood and brain samples, cerebrospinal fluid when available, and DNA from stereo‑EEG (SEEG) electrodes. Enrollees are children (3 months to 25 years) undergoing epilepsy surgery and their parents; requirements in the record include appropriate social security/insurance coverage and no contraindication to anaesthesia, MRI, or surgery.
What it is studying. Whether brain somatic (mosaic) genetic changes can be detected by sequencing paired blood and brain samples and by tracing DNA captured from SEEG electrodes, and to functionally validate candidate variants found in children with drug‑resistant focal epilepsy.
What the researchers hope to learn. Identify brain somatic mutations that are associated with focal drug‑resistant epilepsies; assess whether DNA from SEEG electrodes can be used to detect such mutations; perform functional studies to learn how candidate variants affect biology.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Genetic
- Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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
Study description and what participation involves
The registry record has no detailed description beyond the summary above.
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AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Parents sign informed consent. Children will give blood and saliva samples; if they undergo epilepsy surgery researchers will collect frozen resected brain tissue and may collect cerebrospinal fluid (CSF). DNA from paired blood and brain samples and from stereo‑EEG (SEEG) electrodes may be sequenced and analysed. The registry record does not specify additional procedures for parents beyond consent.
How the study is structured. A family‑based, cross‑sectional observational study. Children undergoing epilepsy surgery (and their parents) give blood, resected brain tissue (frozen), and sometimes CSF; DNA from SEEG electrodes is also collected when used. Investigators perform genetic sequencing on paired samples and follow up candidate findings with laboratory functional studies. No treatment is assigned by the study.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on tuberous sclerosis complex
Important dates
- Study start
- Dec 17, 2015
- Primary completion
- December 2026 (estimated)
- Study completion
- December 2031 (estimated)
- Target enrollment
- 450 participants (estimated)
- Last updated on registry
- Apr 17, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Amelie YAVCHITZ, MD 📞 +33 1 48 03 64 54 ✉ ayavchitz@for.paris
- Mathilde CHIPAUX, MD, PhD 📞 +33 1 48 03 69 43 ✉ mchipaux@for.paris
Participating sites (1)
- Fondation Ophtalmologique Adolphe de RothschldRecruiting
Paris, 75019 · France
- Mathilde Chipaux, MD, Phd · +33148036943 · mchipaux@for.paris
- Mathilde CHIPAUX, MD, PhD
- Stéphanie Baulac, PhD
Terms used on this page · explanations by MedicalUpdates.ai
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- contraindication
- A reason a particular test or treatment should not be used for a person, for example a metal implant that rules out an MRI scan.
- MRI
- A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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