Recruitment and Deep Phenotyping of Infants with Angelman Syndrome to Enable Early Treatment
Several promising treatments are being developed for Angelman syndrome (AS), with the goal of restoring function of UBE3A. Therapies administered early in life are expected to be most beneficial, but AS is often not diagnosed until 1-4 years of age, thereby missing an important therapeutic window in the first year of life. The recent increased availability of genetic testing has enabled early identification of infants with AS, creating an unprecedented opportunity to conduct the first deep phenotyping study of AS infants and identify clinically actionable biomarkers for clinical trials.
Funding from the Angelman Syndrome Foundation will be leveraged with existing funding from NIH to acquire longitudinal MRIs of brain growth and CSF physiology; EEG; neurological exam; in-home sleep metrics; and motor, cognitive, communication, and feeding measures. This study aims to chart the earliest symptoms of AS, establish baseline measures of infant development, and identify biomarkers that could serve as reliable, objective, and quantitative metrics of disease severity and treatment response – in order to design the most effective clinical trials for AS infants.