Working…
COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC: https://www.coronavirus.gov.

Get the latest research information from NIH: https://www.nih.gov/coronavirus.
ClinicalTrials.gov
ClinicalTrials.gov Menu

Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies (GENEPHY)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02890641
Recruitment Status : Recruiting
First Posted : September 7, 2016
Last Update Posted : November 15, 2019
Sponsor:
Information provided by (Responsible Party):
Fondation Ophtalmologique Adolphe de Rothschild

Brief Summary:
Brain somatic mutations in genes belonging to the mTOR pathway are well recognized in malformations of the cortical development, such as focal cortical dysplasia or hemimegalencephaly. The present study aims to search for brain somatic mutations in paired blood-brain samples from children undergoing epilepsy surgery at the Rothschild Foundation, Paris. Patients and their parents will be recruited to identify genetic abnormalities both in lymphocytic and cortical DNA.

Condition or disease Intervention/treatment
Cortical Dysplasia-Focal Epilepsy Syndrome Genetic: Sequencing of paired blood-brain DNA samples

Layout table for study information
Study Type : Observational
Estimated Enrollment : 450 participants
Observational Model: Family-Based
Time Perspective: Cross-Sectional
Actual Study Start Date : December 12, 2015
Estimated Primary Completion Date : December 2030
Estimated Study Completion Date : December 2030


Group/Cohort Intervention/treatment
drug resistant epilepsy
Sequencing of paired blood-brain DNA samples
Genetic: Sequencing of paired blood-brain DNA samples
Sequencing of paired blood-brain DNA samples to search for genetic abnormalities




Primary Outcome Measures :
  1. qualitative genetic analysis [ Time Frame: baseline ]
    presence of genetic abnormalities, either in lymphocytic or in cortical DNA.


Biospecimen Retention:   Samples With DNA
cortical tissu removed from neurosurgical intervention of epilespy


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   3 Months to 25 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
children with focal drug-resistant epilepsy, undergoing epilepsy surgery,their parents and related party
Criteria

Inclusion Criteria:

  • children with focal drug-resistant epilepsy (Patients with drug-resistant epilepsies, patients with hemimegalencephaly, patients with tuberous sclerosis)
  • parents of these children and adult relatives who have signed informed consent 1) for their child's participation (for parents) and 2) for themselves (parents and adult relatives)
  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02890641


Contacts
Layout table for location contacts
Contact: Laurence Salomon, MD +33 1 48 03 64 31 lsalomon@fo-rothschild.fr
Contact: Mathilde Chipaux, MD 01 48 03 69 43 mchipaux@for.paris

Locations
Layout table for location information
France
Fondation Ophtalmologique Adolphe de Rothschld Recruiting
Paris, France, 75019
Contact: Laurence Salomon, MD    +33 1 48 03 64 31    lsalomon@fo-rothschild.fr   
Principal Investigator: Georg Dorfmüller, MD         
Sub-Investigator: Stéphanie Baulac         
Sponsors and Collaborators
Fondation Ophtalmologique Adolphe de Rothschild
Investigators
Layout table for investigator information
Principal Investigator: Georg DORFMÜLLER, MD Fondation A de Rothschild
Additional Information:
Layout table for additonal information
Responsible Party: Fondation Ophtalmologique Adolphe de Rothschild
ClinicalTrials.gov Identifier: NCT02890641    
Other Study ID Numbers: GDR_2015_15
First Posted: September 7, 2016    Key Record Dates
Last Update Posted: November 15, 2019
Last Verified: November 2019
Keywords provided by Fondation Ophtalmologique Adolphe de Rothschild:
focal cortical dysplasia
malformation of cortical development
hemimegalencephaly
Additional relevant MeSH terms:
Layout table for MeSH terms
Epilepsy
Epilepsies, Partial
Malformations of Cortical Development
Epileptic Syndromes
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Nervous System Malformations
Congenital Abnormalities