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RecruitingNCT02890641GENEPHYUpdated Apr 17, 2026

Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

An observational study in Drug-resistant Focal Epilepsies in Pediatric Population, sponsored by Fondation Ophtalmologique Adolphe de Rothschild. Recruiting at 1 site in France. Open to participants aged 3 Months to 25 Years. Per ClinicalTrials.gov, last updated 2026-04-17.

Sponsored by Fondation Ophtalmologique Adolphe de Rothschild · Observational

Study type
Observational
Model
Family-based
Time perspective
Cross-sectional
Enrollment
450
Ages
3 Months to 25 Years
Sex
All
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Study summary

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.

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Conditions studied

  • Drug-resistant Focal Epilepsies in Pediatric Population

Keywords

  • Focal Cortical Dysplasia
  • Cortical Malformation
  • Hemimegalencephaly
  • Tuberous sclerosis
  • Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
  • Hypothalamic hamartomas
  • Refractory Focal Epilepsy
  • Rasmussen Encephalitis
  • Epilepsy Surgery
  • Struge-Weber Syndrome
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Who can participate

Ages eligible
3 Months to 25 Years
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Children with focal drug-resistant epilepsy undergoing epilepsy surgery and their parents

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

Exclusion Criteria:

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

Observational model
Family-based
Time perspective
Cross-sectional
Enrollment
450 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • Children undergoing epilepsy surgery at the Rothschild Foundation, Paris.

    Sequencing of paired blood-brain DNA samples, SEEG electrodes

    Genetic: Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)

Interventions

  • GeneticSampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)

    Sampling of blood, frozen resected tissue, saliva, and cerebrospinal fluid (CSF); sequencing of paired blood-brain DNA samples, SEEG electrodes

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What researchers measure

Primary outcomes

  1. qualitative genetic analysis

    Detection of brain somatic mutations and functional studies

    Time frame: baseline

06

Study locations

1 of 1 sites recruiting
  • Fondation Ophtalmologique Adolphe de Rothschld
    Paris, 75019, France
    • Mathilde Chipaux, MD, Phd · Contact · mchipaux@for.paris · +33148036943
    • Mathilde CHIPAUX, MD, PhD · Principal investigator
    • Stéphanie Baulac, PhD · Sub investigator
    Recruiting
07

References and documents

Publications

  • Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmuller G, Chipaux M, Baulac S. Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. Acta Neuropathol. 2019 Dec;138(6):885-900. doi: 10.1007/s00401-019-02061-5. Epub 2019 Aug 23. PubMed 31444548 ↗
  • Bonduelle T, Hartlieb T, Baldassari S, Sim NS, Kim SH, Kang HC, Kobow K, Coras R, Chipaux M, Dorfmuller G, Adle-Biassette H, Aronica E, Lee JH, Blumcke I, Baulac S. Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). Acta Neuropathol Commun. 2021 Jan 6;9(1):3. doi: 10.1186/s40478-020-01085-3. PubMed 33407896 ↗
  • Lee WS, Baldassari S, Chipaux M, Adle-Biassette H, Stephenson SEM, Maixner W, Harvey AS, Lockhart PJ, Baulac S, Leventer RJ. Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia. Ann Clin Transl Neurol. 2021 Feb;8(2):485-490. doi: 10.1002/acn3.51286. Epub 2021 Jan 12. PubMed 33434304 ↗
  • Kim S, Baldassari S, Sim NS, Chipaux M, Dorfmuller G, Kim DS, Chang WS, Taly V, Lee JH, Baulac S. Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients. Ann Neurol. 2021 Jun;89(6):1248-1252. doi: 10.1002/ana.26080. Epub 2021 Apr 20. PubMed 33834539 ↗
  • Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Hermanovska B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krskova L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group. Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. Neurology. 2023 Jan 31;100(5):e528-e542. doi: 10.1212/WNL.0000000000201471. Epub 2022 Oct 28. PubMed 36307217 ↗
  • Checri R, Chipaux M, Ferrand-Sorbets S, Raffo E, Bulteau C, Rosenberg SD, Doladilhe M, Dorfmuller G, Adle-Biassette H, Baldassari S, Baulac S. Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup. Brain Commun. 2023 Jun 1;5(3):fcad174. doi: 10.1093/braincomms/fcad174. eCollection 2023. PubMed 37324239 ↗
  • Ribierre T, Bacq A, Donneger F, Doladilhe M, Maletic M, Roussel D, Le Roux I, Chassoux F, Devaux B, Adle-Biassette H, Ferrand-Sorbets S, Dorfmuller G, Chipaux M, Baldassari S, Poncer JC, Baulac S. Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy. Nat Neurosci. 2024 Jun;27(6):1125-1136. doi: 10.1038/s41593-024-01634-2. Epub 2024 May 6. PubMed 38710875 ↗
  • Sanders MWCB, Koeleman BPC, Brilstra EH, Jansen FE, Baldassari S, Chipaux M, Sim NS, Ko A, Kang HC, Blumcke I, Lal D, Baulac S, Lee JH, Aronica E, Braun KPJ. Somatic variant analysis of resected brain tissue in epilepsy surgery patients. Epilepsia. 2024 Dec;65(12):e209-e215. doi: 10.1111/epi.18148. Epub 2024 Oct 26. PubMed 39460693 ↗
  • Baldassari S, Klingler E, Teijeiro LG, Doladilhe M, Raoux C, Roig-Puiggros S, Bizzotto S, Couturier J, Gilbert A, Sami L, Ribierre T, Aronica E, Adle-Biassette H, Chipaux M, Jabaudon D, Baulac S. Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia. Nat Neurosci. 2025 May;28(5):964-972. doi: 10.1038/s41593-025-01936-z. Epub 2025 Apr 30. PubMed 40307383 ↗

Related links

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Registry details

Key details

Study ID
NCT02890641
Lead sponsor
Fondation Ophtalmologique Adolphe de Rothschild
Responsible party
Sponsor
First posted
Sep 7, 2016
Start date
Dec 17, 2015
Primary completion
Dec 2026 (estimated)
Completion
Dec 2031 (estimated)
Last update
Apr 17, 2026

Study contacts

Amelie YAVCHITZ, MD
Contact
ayavchitz@for.paris
+33 1 48 03 64 54
Mathilde CHIPAUX, MD, PhD
Contact
mchipaux@for.paris
+33 1 48 03 69 43
Mathilde CHIPAUX, MD, PhD
principal investigator · Fondation A de Rothschild
Stéphanie BAULAC, PhD
study chair · Institut du Cerveau
View the source record on ClinicalTrials.gov ↗

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