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Drug-resistant Focal Epilepsies in Pediatric PopulationGENEPHYNCT02890641

Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

An observational study of Drug-resistant Focal Epilepsies in Pediatric Population, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
Search all trials

Trial 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… Read more about this study

Who is it for?
Ages 3 months to 25 years
What is being tested?
Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)
How many people
450 participants
Where
1 siteFrance
Study dates
17 Dec 2015to Dec 2031
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 3 months to 25 years
  • All sexes
  • No healthy volunteers
  • Child, Adult

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

Who may be able to join

  • 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

Who cannot join

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

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

Amelie YAVCHITZ, MD contact

+33 1 48 03 64 54

ayavchitz@for.paris

Mathilde CHIPAUX, MD, PhD contact

+33 1 48 03 69 43

mchipaux@for.paris

France1 site, 1 recruiting

  • Fondation Ophtalmologique Adolphe de Rothschld

    Paris, 75019

    Mathilde Chipaux, MD, Phd, +33148036943, mchipaux@for.paris

    Mathilde CHIPAUX, MD, PhD

    Recruiting

Other trials in France

About this study

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.

Being tested
Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)
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
Medical subject headings
Focal Cortical Dysplasia, Hemimegalencephaly, Tuberous Sclerosis, Hypothalamic hamartomas, Epilepsies, Partial, Encephalitis

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

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

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

Study groups in NCT02890641
Study groupRoleWhat they receive
Children undergoing epilepsy surgery at the Rothschild Foundation, Paris.Sequencing of paired blood-brain DNA samples, SEEG electrodes
Receives: Genetic: Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. qualitative genetic analysis

    Detection of brain somatic mutations and functional studies

    Measured: baseline

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted7 Sep 2016 (estimated)
  2. Study start17 Dec 2015
  3. Primary completionDec 2026 (estimated)
  4. Study completionDec 2031 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Family based
Time perspective
Cross-sectional
Enrolment
450 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT02890641
Sponsor's protocol ID
GDR_2015_15
Acronym
GENEPHY
Status last verified
Apr 2026
First submitted
29 Aug 2016
Last updated
17 Apr 2026
Results posted
No

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

Questions about this trial

What is this clinical trial studying?

An observational study of Drug-resistant Focal Epilepsies in Pediatric Population, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 17 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Amelie YAVCHITZ, MD (+33 1 48 03 64 54, ayavchitz@for.paris), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

qualitative genetic analysis (time frame: baseline). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT02890641, which also lists 9 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Apr 2026.

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