Dravet syndrome International Patient Registry
Solving the Puzzle of Intractable Childhood Epilepsy Syndromes
Michelle Welborn, PharmD
Intractable Childhood Epilepsy Alliance
Lewisville, North Carolina USA
The genetic basis of pediatric epilepsy syndromes is receiving increasing attention as known seizure propagating gene mutations are identified and genetic testing is commercially available. Dravet syndrome, or severe myoclonic epilepsy of infancy (SMEI), is an epileptic encephalopathy caused by a mutation in the SCN1A gene in 80% of children affected. The Dravet Syndrome Registry is a longitudinal and prospective, observational and non-interventional study that will help solve the puzzle of this rare syndrome by narrowing the gap between cell based knowledge and clinical disease.
Online questionaire developed through Vista Vanguard Software
Participants identified through web based support group
Questionaire launched for beta testing – parents concented
Dravet c, Bureau M, et al. Severe myoclonic epilepsy of infancy: In Roger J, et al: Epileptic Syndromes in Infancy, Childhood and Adolescence, 3ed. John Libbey, Eastligh, pp81-103.
DeLisa Fairweather, Department of Pathology, Johns Hopkins University, Baltimore, MD 21205, USA; fax: 410-614-3548; email: firstname.lastname@example.org
National Institute of Health. Numbers Count: Mental Disease in America. http:// www.nimh.nih.gov/publicat/numbers/cfm
Registries for Evaluation of Patient Outcomes: A User’s Guide. AHRQ http://effective healthcare.ahrq.gov/
Beta testing of this simple registry revealed interesting trends in the family history of this epileptic encephalopathy including co- morbid conditions, average age of diagnosis of Dravet syndrome, drugs that improve or worsen the condition, variation of “acceptable” seizure control, and parent understanding of medical questions.
This database will be organized into a validated commercially available software system after refinements and will be expanded to include all intractable childhood epilepsy syndromes. A physician registry will be launched with SCN1A referral centers as they are identified and developed.