Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Study Purpose
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
Recruitment Criteria
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Accepts Healthy Volunteers
Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms |
No |
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Study Type
An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes. An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes. Searching Both is inclusive of interventional and observational studies. |
Observational |
| Eligible Ages | 3 Months - 25 Years |
| Gender | All |
Trial Details
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Trial ID:
This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries. |
NCT02890641 |
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Phase
Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans. Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data. Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs. Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use. |
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Lead Sponsor
The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data. |
Fondation Ophtalmologique Adolphe de Rothschild |
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Principal Investigator
The person who is responsible for the scientific and technical direction of the entire clinical study. |
Mathilde CHIPAUX, MDStephanie Boulac, PhD |
| Principal Investigator Affiliation | Fondation A de RothschildInstitut du Cerveau et de la Moelle Epinière |
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Agency Class
Category of organization(s) involved as sponsor (and collaborator) supporting the trial. |
Other |
| Overall Status | Recruiting |
| Countries | France |
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Conditions
The disease, disorder, syndrome, illness, or injury that is being studied. |
Refractory Focal Epilepsy, Focal Cortical Dysplasia, Hemimegalencephaly, Tuberous Sclerosis, Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia in Epilepsy (MOGHE) |
| Study Website: | View Trial Website |
Contact a Trial Team
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