Funding Research for Treatments and a Cure

Recruitment and Deep Phenotyping of Infants with Angelman Syndrome to Enable Early Treatment
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Jamie Capal Jamie Capal, PhD & Mark Shen, PhD University of North Carolina, Chapel Hill

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.


Study Update

(May 2023)  Ten infants have been recruited, including 5 infants with Angelman syndrome and 5 infants with fragile X syndrome. Valuable data has been acquired through EEG, in-home sleep monitoring, feeding questionnaires, neurological exams, behavioral assessments, and brain MRI during natural sleep.

A new collaboration was established between the research team and Dr. Mike Sidorov, who helped first identify the EEG delta biomarker in AS, an outcome measure used in all clinical trials for AS at UNC.

This study aims to be the first-ever to understand the natural history of Angelman syndrome at an early age that has never been studied before – thereby enabling the promise of downward extending potential therapeutics to the first year of life, when the maximal clinical benefit could be realized.

Dr. Capal will present at the ASF/Du15q Research Symposium in July 2023.

Any interested families with a baby with AS can learn more at