- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02890641
Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies (GENEPHY)
December 12, 2023 updated by: Fondation Ophtalmologique Adolphe de Rothschild
Brain 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
Study Overview
Status
Recruiting
Conditions
Intervention / Treatment
Study Type
Observational
Enrollment (Estimated)
450
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Mathilde Chipaux, MD
- Phone Number: 01 48 03 69 43
- Email: mchipaux@for.paris
Study Contact Backup
- Name: Amélie Yavchitz, MD
- Phone Number: +33 1 48 03 64 54
- Email: ayavchitz@for.paris
Study Locations
-
-
-
Paris, France, 75019
- Recruiting
- Fondation Ophtalmologique Adolphe de Rothschld
-
Principal Investigator:
- Georg Dorfmüller, MD
-
Sub-Investigator:
- Stéphanie Baulac, PhD
-
Contact:
- Amélie Yavchitz, MD
- Phone Number: +33 1 48 03 64 54
- Email: ayavchitz@for.paris
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
1 year to 23 years (Child, Adult)
Accepts Healthy Volunteers
No
Sampling Method
Non-Probability Sample
Study Population
Children with focal drug-resistant epilepsy undergoing epilepsy surgery and their parents
Description
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 Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Family-Based
- Time Perspectives: Cross-Sectional
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Children undergoing epilepsy surgery at the Rothschild Foundation, Paris.
Sequencing of paired blood-brain DNA samples
|
Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
qualitative genetic analysis
Time Frame: baseline
|
Detection of brain somatic mutations and functional studies
|
baseline
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Investigators
- Principal Investigator: Mathilde CHIPAUX, MD, Fondation A De Rothschild
- Study Chair: Stephanie Boulac, PhD, Institut du Cerveau et de la Moelle Epinière
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
Helpful Links
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
December 12, 2015
Primary Completion (Estimated)
December 1, 2030
Study Completion (Estimated)
December 1, 2030
Study Registration Dates
First Submitted
August 29, 2016
First Submitted That Met QC Criteria
August 31, 2016
First Posted (Estimated)
September 7, 2016
Study Record Updates
Last Update Posted (Estimated)
December 13, 2023
Last Update Submitted That Met QC Criteria
December 12, 2023
Last Verified
December 1, 2023
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Pathologic Processes
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Neoplasms
- Genetic Diseases, Inborn
- Musculoskeletal Diseases
- Neurodegenerative Diseases
- Heredodegenerative Disorders, Nervous System
- Neoplastic Syndromes, Hereditary
- Craniofacial Abnormalities
- Musculoskeletal Abnormalities
- Malformations of Cortical Development, Group I
- Nervous System Malformations
- Neurocutaneous Syndromes
- Hamartoma
- Neoplasms, Multiple Primary
- Megalencephaly
- Epilepsy
- Sclerosis
- Hyperplasia
- Congenital Abnormalities
- Epilepsies, Partial
- Tuberous Sclerosis
- Hemimegalencephaly
- Malformations of Cortical Development
- Focal Cortical Dysplasia
Other Study ID Numbers
- GDR_2015_15
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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