About this Talk
In this talk, Jeffrey Neul will review the progress in research in Rett syndrome. Dr. Neul will briefly provide a historical perspective of Rett syndrome, spanning from the initial recognition of the disorder to the discovery of the genetic basis and the development of disease models, and finally present an overview of recent successful clinical trials in Rett syndrome.
Dr. Neul will discuss how the US Natural History Study (NHS) from 2003-2021 was instrumental in establishing “Clinical Trial Readiness” for Rett syndrome by created a network of clinical trial sites, characterizing the clinical features and natural history of Rett syndrome, and working to develop meaningful clinical outcome measures and biomarkers. Importantly, he will discuss the importance of creation and utilization of clinical outcome measures that assess areas most concerning to affected people and their caregivers. Although the US NHS has ended, the data obtained will continue to provide valuable information that will be vital to the success of future clinical trials in Rett syndrome exploring exciting new treatment approaches.