Validation of biomarkers for Angelman syndrome clinical trials

$295,970 (2 years)

This unique research project is the AS research community’s first attempt at establishing biomarkers as benchmarks for success in future AS clinical trials. The research team’s approach leverages what has been learned from the two ASF-funded Angelman Syndrome Clinics and the advancements in AS mouse models, taking advantage of both to measure traits in individuals with AS that could be used to prove the effectiveness of clinical trials. The research team will identify biological characteristics that may indicate if individuals are positive responders to treatments, which can be used in all AS clinical trials in the future. The research team will evaluate three areas to establish benchmarks to indicate future clinical trial success:

1. Brain circuitry in AS patients using MRI
2. Brain electrical activity through EEGs
3. Deficits in peripheral nerve functions, not just central nerve functions

Ben Philpot, PhD
University of North Carolina-Chapel Hill

Heather Hazlett, PhD
Carolina Institute of Developmental Disabilities at University of North Carolina-Chapel Hill

Ron Thibert, MD
Massachusetts General Hospital