Kelly Knupp, MD – Children’s Hospital Colorado
Longitudinal Dravet Syndrome Natural History Study
Special Project Funding: 3 years – $662,231
Grant Summary from the Investigators:
The Dravet Lifespan Multidisciplinary Clinic at Children’s Hospital Colorado in collaboration with the Dravet Syndrome Foundation is pleased to announce the Dravet Syndrome Natural History Study.
A natural history study is a kind of research project that seeks to understand how a disease develops and changes over time, without impacting treatment decisions. This natural history study proposes to follow people living with Dravet syndrome across the lifespan to help us understand the syndrome better by getting a clearer picture of what is “normal” for the condition with our current management. This study will establish a robust database that will capture standardized clinical, neuropsychological, and parent-reported data on key signs and symptoms across the lifespan.
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.
This includes tracking how common and severe different symptoms are at each age and how they relate to one another, like how seizures might affect development, behavior, and sleep. We’ll also look at how these symptoms impact the quality of life for parents and families, identifying which improvements could make the biggest difference. Finally, we’ll explore how these outcomes connect to specific genetic changes to better understand how different types of mutations might influence Dravet Syndrome. Additionally, data will be collected in a manner that will allow this dataset to be combined with similar efforts in other countries.
Not only will this study help us understand Dravet better, but it will help us design better treatments and be able to choose the right patients for the right trials.
About the Investigator:
Kelly Knupp is a Professor of Pediatrics and Neurology at the University of Colorado. She received her medical degree from the University of New Mexico – School of Medicine, completed her residency in Pediatrics at Children’s Hospital of New York followed by Pediatric Neurology Residency at Columbia University at Children’s Hospital of New York. After her residency, she trained as a Clinical Fellow in Pediatric Epilepsy at the Columbia Comprehensive Epilepsy Center at New York Presbyterian Hospital.
Dr. Knupp now practices at Children’s Hospital Colorado in Aurora, CO. and is the Director of the Dravet Program and Director of the Epilepsy Program. Her interests are epileptic encephalopathies including Dravet Syndrome and infantile spasms. She was a founding member of the Pediatric Epilepsy Research Consortium. This group focuses on developing collaborative research across the country for children with epileptic encephalopathies. She also serves on Board of the American Epilepsy Society and the medical advisory boards of the Dravet Syndrome Foundation, Coalition to Cure CHD2 and KCNQ2 Cure Alliance.