NCT00552045

Epilepsy Phenome/Genome Project

Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 4,150 (actual)
• Sponsor: University of California, San Francisco · Academic / Other
• Sex: All
• Age: 4 Weeks – 60 Years
• Healthy volunteers: Not accepted

Summary

The purpose of this study is to collect detailed information about the characteristics and genetics of a large number of individuals with epilepsy.

Detailed description

Epilepsy is one of the most common neurological disorders and is a major public health concern. Approximately 30 percent of people with epilepsy have medically intractable epilepsy, and the medical and social consequences of the disorder are enormous. Treatments developed for epilepsy have largely been experimental rather than based on knowledge of basic mechanisms because the mechanisms are poorly understood. The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, international, multi-institutional, collaborative research project aimed at advancing the understanding of the genetic basis of the most common forms of epilepsy. The overall goal of EPGP is to collect detailed, high quality phenotypic (i.e., characteristics of individuals, from the molecular level to the whole person) information on persons with epilepsy and to compare the phenotypic information with genomic information. EPGP will provide a resource that may lead to many discoveries related to the diagnosis and treatment of epilepsy, including the eventual development of new therapies based on a better understanding of causes of the disorder.

Conditions

• Epilepsy
• Localization-related Epilepsy
• Infantile Spasms
• Lennox-Gastaut Syndrome
• Polymicrogyria
• Periventricular Heterotopias

Timeline

• Start date: 2007-11-01
• Primary completion: 2013-12-01
• Completion: 2018-10-01
• First posted: 2007-11-01
• Last updated: 2018-11-13

Locations

25 sites across 3 countries: United States, Argentina, Australia