Abstracts

Rationale: Early onset epilepsies comprise many different rare disorders. Seizure and developmental outcomes are often poor although rapid diagnosis and appropriate treatment may ameliorate these outcomes. Ability to improve care by incorporating advances in treatment is limited due to the low frequency with which individual epilepsies occur and the difficulty in studying them in a single or even a few centers. The Pediatric Epilepsy Research Consortium (PERC) represents 30 US pediatric epilepsy centers with a mission to advance clinical research that improves pediatric epilepsy care and patient outcomes.Methods: In early 2012, 13 centers participated in an initial feasibility study to provide counts of eligible patients for a 2-month period based on chart-review to facilitate planning larger-scale studies. Since then, two intersecting studies have begun: 1. The Infantile Spasms Study (ISS) which targets children with newly-presenting spasms and focusing on response to initial therapies and 2. The Early-Onset Epilepsy Study (EOES), which targets all children with newly presenting epilepsy under three years of age. Primary goals include determining the frequency of different causes of epilepsy and treatment responses during the 1st year after diagnosis. Both studies seek to define the variations in treatment practice and how these correlate with variations in seizure outcomes. A common database was created to house both studies utilizing REDCap .Results: Preliminary counts at 13 centers yielded 1-20 newly disagnosed patients/month, with a total of 208 over 2 months. The projected yearly total is >1200. No specific cause was identified in 55%. Brain malformations (11%), HIE/IVH (7%), postnatal stroke (6%), infections (4%), tuberous sclerosis (2%), tumor (2%) were the most common causes. Various genetic/chromosomal causes occurred in a total of 8%. Infantile spasms represented 23% of the patients; nonsyndromic epilepsies (NSE) with an identified structural lesion or metabolic disorder, 25%; Doose syndrome 2.4%; other individual syndromic epilepsies each <1% of the total. NSE of unknown cause accounted for 46% of patients. Based on preliminary prospective enrollment figures, the ISS can identify 500 children per year once all 30 centers are enrolling. Prospective enrollment at one EOES center (6/12 6/13) has yielded counts and distributions of early-onset epilepsies and causes concordant with expectations from the 2-month preliminary counts. Conclusions: Studying rare disorders such as the early-onset epilepsies requires a high level of cooperation and infrastructure to support a collaborative network. PERC represents the initial phases of such an effort and has already engaged a large number of investigators in some initial collaborative research projects. Because of the number of patients involved and the national representation of centers, this network has the potential to facilitate rapid initiation and completion of studies to speed up the pace with which improvements to care are made. Funding: Pediatric Epilepsy Research Foundation and AES Infrastructure award.