Four-Year Study of Development and Symptoms in Children and Young Adults With Dravet Syndrome and SCN1A Gene Mutation

What this Trial Is About

Dravet syndrome with an SCN1A gene mutation is a severe developmental and epileptic condition marked by treatment-resistant seizures and delayed overall development. Researchers are conducting a prospective natural history study to better understand how the neurodevelopmental profile of patients with SCN1A-positive Dravet syndrome evolves over time, focusing on children and young adults aged 6 months to 21 years over a four-year span. The study aims to fill gaps left by previous shorter or narrower studies and will also explore metabolomic biomarkers related to clinical outcomes. Participants will undergo initial baseline assessments including medical history, seizure details, genetic diagnosis, and current treatments. Standardized tools such as the Vineland-3 for adaptive behavior, GMFM-66 for motor function, CGI scales for clinical impressions, and Bayley-IV for developmental evaluation up to 8 years old will be used. Blood samples will be taken for metabolomic analysis including serum GABA levels. Annual visits for four years will repeat these assessments and collect updated medical information, tracking the progression of the syndrome. Throughout the study, participants will have detailed evaluations by psychologists, physiotherapists, and clinicians, with assessments conducted at baseline and yearly for four years. Researchers will monitor clinical changes, developmental progress, and biochemical markers. At the studys end, a comprehensive report will summarize the clinical and functional evolution of Dravet syndrome in the cohort. This longitudinal follow-up will provide valuable insights into the course of the condition and potential biomarker associations.

Longitudinal Study of Phenotypic and Developmental Severity in Patients With Dravet Syndrome With SCN1A Gene Mutation