Nakagawa, J., Whittemore, V.h., Cinkosky, M., Sparagana, S., Thiele, Elizabeth, Brown, C., Frost, M., Mcclintock, W., Bebin, E.m., Kohrman, M., Northrup, H., Wu, J.y., Levisohn, P., Koh, S., Gupta, A., Ashwal, S., Duchowny, M., Miller, I.o., Lajoie, J., Jansen, Anna, and Public Health Care
Rationale: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease that affects about 50,000 Americans and an estimated one million people worldwide. This disorder affects any or all systems of the human body. Epilepsy is one of the leading conditions affecting individuals with TSC - up to 90%. TSC has the distinction of providing researchers with an opportunity to study co-morbid conditions in a disease with a known gene mutation on chromosome 9 and 16 (TSC1 and TSC2 respectively). A need was identified to develop a central repository of medical information that would expand the understanding of how TSC affects individuals at different times in their lives. The Tuberous Sclerosis Alliance launched the first ever comprehensive database in 2006 to meet this goal. Methods: The TSC Database Project Group is a network of TSC Clinics with institutional review board or ethics committee approval to enter medical information about individuals with TSC into a password-protected, relational database maintained on a secure server at Tesuji, Inc. (Denver, CO). The database system uses a platform-neutral interface that relies only on standard web-related communication protocols (e.g. http, https) to reduce the possibility that its use would conflict with firewalls or other security measures in place at the participating TSC Clinics. The system creates a unique ID for each participant, which contains no personal identifiers. Authorized TSC Clinic personnel enter retrospective (i.e. initial data entry) and prospective information (i.e. follow-up over the course of a participant's life-time) about conditions affecting the following areas: cardiac, dental, dermatological, liver, neurological, ophthalmological, psychological, pulmonary, renal, and reproductive. The database system enables authorized database users to generate summary reports about the contents of the database and to search for participants who match a search criteria selection. The database may also be queried using Structured Query Languageto provide researchers with information about a single condition or co-morbid conditions affecting individuals with TSC. Results: As of May 25, 2009, fifteen TSC Clinics (14 in the U.S. and one in Europe) were consenting individuals with TSC to participate in the database project, with initial data entered on 95% of the 781 participants. Queries of the study participants to identify those with a diangosis of epilepsy revealed that 607/781 (78%) have epilepsy, 236/607 (39%) had infantile spasms, and 343/607 (57%) have a diagnosis of complex partial seizures. Detailed analysis of seizure and surgery types will be presented. Conclusions: The TSC Natural History Database provides a functional tool for collecting clinical information about individuals with TSC over their lifespan from multiple clinic sites in the USA and in Europe. The majority of study participants have a diagnosis of epilepsy and the clinical information collected over their lifespan provides valuable information about the natural history and treatments for epilepsy in this population.