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Multicenter Study
. 2013 Aug;10(4):568-86.
doi: 10.1177/1740774513484392. Epub 2013 Jul 1.

The epilepsy phenome/genome project

EPGP Collaborative; Bassel Abou-Khalil, Brian Alldredge, Jocelyn Bautista, Sam Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Sabrina Cristofaro, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael Epstein, Robyn Fahlstrom, Miguel Fiol, Nathan Fountain, Kristen Fox, Jacqueline French, Catharine Freyer Karn, Daniel Friedman, Eric Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl Haut, Jean Hayward, Sandra Helmers, Sucheta Joshi, Andres Kanner, Heidi Kirsch, Robert Knowlton, Eric Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel Lowenstein, Shannon McGuire, Paul Motika, Gerard Nesbitt, Edward Novotny, Ruth Ottman, Juliann Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Neil Risch, Lynette Sadleir, Ingrid Scheffer, Renee Shellhaas, Elliott Sherr, Jerry J Shih, Shlomo Shinnar, Rani Singh, Joseph Sirven, Michael Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen Vining, Gretchen von Allmen, Judith Weisenberg, Peter Widdess-Walsh, Melodie Winawer
Collaborators
Multicenter Study

The epilepsy phenome/genome project

EPGP Collaborative et al. Clin Trials. 2013 Aug.

Abstract

Background: Epilepsy is a common neurological disorder that affects approximately 50 million people worldwide. Both risk of epilepsy and response to treatment partly depend on genetic factors, and gene identification is a promising approach to target new prediction, treatment, and prevention strategies. However, despite significant progress in the identification of genes causing epilepsy in families with a Mendelian inheritance pattern, there is relatively little known about the genetic factors responsible for common forms of epilepsy and so-called epileptic encephalopathies. Study design The Epilepsy Phenome/Genome Project (EPGP) is a multi-institutional, retrospective phenotype-genotype study designed to gather and analyze detailed phenotypic information and DNA samples on 5250 participants, including probands with specific forms of epilepsy and, in a subset, parents of probands who do not have epilepsy.

Results: EPGP is being executed in four phases: study initiation, pilot, study expansion/establishment, and close-out. This article discusses a number of key challenges and solutions encountered during the first three phases of the project, including those related to (1) study initiation and management, (2) recruitment and phenotyping, and (3) data validation. The study has now enrolled 4223 participants.

Conclusions: EPGP has demonstrated the value of organizing a large network into cores with specific roles, managed by a strong Administrative Core that utilizes frequent communication and a collaborative model with tools such as study timelines and performance-payment models. The study also highlights the critical importance of an effective informatics system, highly structured recruitment methods, and expert data review.

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Conflict of interest statement

Conflict of interest: None declared.

Figures

Figure 1
Figure 1
EPGP enrollment, phenotyping, and data review process. IGE: idiopathic generalized epilepsy; LRE: localization-related epilepsy; EEG: electroencephalogram; MRI: magnetic resonance imaging; EPGP: Epilepsy Phenome/Genome Project; AED: antiepileptic drug.
Figure 2
Figure 2
The EPGP organizational structure. EPGP: Epilepsy Phenome/Genome Project; OSMB: Observational Study Monitoring Board; EEG: electroencephalogram.
Figure 3
Figure 3
Workflow for the review of participant data by the EPGP Data Review Core. EPGP: Epilepsy Phenome/Genome Project.
See this image and copyright information in PMC

References

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