Abstracts

Rationale: The Epilepsy Phenome/Genome Project (EPGP) aims to create a large database of patients with epilepsy who have had extremely detailed phenotyping. The first phase of the project, which is focused entirely on the collection of phenotypic information, has the goal of enrolling the following: 1,500 sibling pairs with idiopathic generalized epilepsy (IGE) or localization-related epilepsy (LRE) (750 probands with IGE and 750 probands with LRE); 1,500 age, ethnicity, and sex-matched controls; 250 infantile spasms (IS) patients and their parents; 250 Lennox-Gastaut Syndrome (LGS) patients and their parents; 250 malformations of cortical development (MCD) patients [specifically polymicrogyria (PMG) or periventricular nodular heterotopia (PVNH)] and their parents, for a total of 6,750 subjects. The EPGP was launched on December 2007 with 4 initial Clinical Centers (including one children’s hospital) that began subject recruitment using a sophisticated web-based data collection system. We investigated early recruitment patterns to identify deficiencies and strengths of the recruitment process. Methods: All patients recruited by the initial 4 Clinical Centers since the launch in December 2007 until the end of May 2008 were identified by the EPGP Data Repository. This database provides an online, up-to-date stratification of recruited subjects by group, age and gender. The groups were divided as follows: 1-Probands, 2-Siblings, and 3-Healthy Controls. Results: Up to May 2008, 4 EPGP Clinical Centers have been enrolling subjects for 6 months, and the remaining 9 sites are in the process of initiating enrollment. Participants were recruited via EPGP Clinical Center patient populations, referrals from non-EPGP healthcare providers, and community outreach efforts. 782 patients have been screened at the 4 initial sites and 156 patients have been enrolled. The enrollment group includes 63 Probands, 27 Siblings, 27 healthy controls, and 39 parent controls. Probands were divided as follows: IGE 27; LRE 14; IS 9; LGS 4; PVNH 7 and PMG 2. 429 patients were ineligible for the study, 12 patients refused participation, and 175 patients are still in the screening process. The main reason for ineligibility was the absence of an eligible sibling who also had epilepsy. The main reason for refusal was not wanting to participate in research. The rate of enrollment increased by 30% in the first 3 months once technical and training issues were resolved. Conclusions: Initial recruitment into the EPGP follows expected patterns of recruitment for a large observational study. Initial recruitment is slow due to complex eligibility criteria, technical demands, and training requirements. Successful enrollment for EPGP will require ongoing creative recruitment strategies and involvement, at the national level, of healthcare professionals and patients in the epilepsy community. (supported by NINDS UO1 NS053998)