DRAVET SYNDROME FOUNDATION INC

1. University of Michigan - Special Project Funding:Understanding Phenotypes and Biomarkers Leading to SUDEP in a Transgenic Rabbit Model - $750,000. This study uses a transgenic rabbit model of Dravet syndrome to identify observable traits and measurable biomarkers associated with increased risk of sudden unexpected death in epilepsy (SUDEP). The goal is to characterize physiological, behavioral, and cardiac indicators that precede critical events. By establishing reliable biomarkers, the research aims to improve risk stratification and enable earlier intervention. The model also provides a platform for testing preventative strategies and understanding underlying mechanisms. 2. In conjunction with Stanford University - Special Project Funding: Identification of Behavioral Biomarkers in Children with DS: A Pilot Study - $29,250. Details for each of these projects can be found at https://dravetfoundation.org/dsf-funded-research/

Dravet Syndrome Natural History Study. The Natural History study will recruit and follow children and adults with Dravet Syndrome to track how often and how severely issues like behavior, development, sleep, appetite, autonomic symptoms, and motor function occur and change over time. The study will establish a robust database that will capture standardized clinical, neuropsychological, and parent-reported data on key signs and symptoms across the lifetime. The study will also explore how these outcomes connect to specific genetic changes to better understand how different types of mutations might influence Dravet Syndrome. This study will increase understanding of Dravet syndrome, and lead to better design of treatments and clinical trials.

Circuit-Selective Whole SCN1A Gene Delivery for Dravet Syndrome. This research focuses on delivering a full-length functional gene specifically to affected neural circuits rather than broadly across the brain utilizing different mouse models of Dravet syndrome. The goal is to improve therapeutic precision while minimizing off-target effects. Using advanced vector systems and targeting strategies, the team aims to restore gene function in key cell populations responsible for disease symptoms. This approach seeks to enhance efficacy and safety of gene therapy by tailoring delivery to the most relevant neural networks.

Identification of Behavioral Biomarkers in Children with DS: A Pilot Study In conjunction with University of Michigan, this pilot study seeks utilize AI and machine learning to identify subtle but measurable behavioral patterns that can serve as biomarkers for disease progression and treatment response in Dravet syndrome that would be undetectable using traditional observational methods. Researchers aim to define objective indicators of cognitive, social, and functional changes with the goal to improve clinical trial endpoints and enable more sensitive tracking of outcomes. Findings may support the development of better tools for evaluating therapeutic impact in patient populations.

1. In conjunction with Tel Aviv University and Institut de Génétique Moléculaire de Montpellier - Transformational Science Grant: Molecular Characterization of the Therapeutic Effect of Exogenous Nav1.1 - $150,000. 2. In conjunction with MIT and Harvard University - Research Grant: Base Editing for the Treatment and Prevention of Dravet Syndrome - $90,000. Details for each of these projects can be found at https://dravetfoundation.org/dsf-funded-research/