The purpose of the study is to evaluate blood sugar levels and beta-cell function in adolescents and adult with KATP hyperinsulinism whom did not undergo pancreatectomy. We will perform oral glucose tolerance tests, glucose potentiated arginine tests, and evaluate blood sugars in home environment by using continuous glucose monitoring for 10 days.

Our team is working on a study to better understand neurological problems, including seizures and developmental delays, that occur in many individuals with HI/HA syndrome. The study involves a one day visit to The Children's Hospital of Philadelphia and The University of Pennsylvania for a specialized magnetic resonance imaging scan (MRI) of the brain, an electroencephalogram (EEG), blood draw, and completion of questionnaires to evaluate development and behavior. The entire study visit is expected to take about four hours. If you are interested in learning more, please contact us at HIResearch@email.chop.edu.

Our team is working on a study to see if children with HI/HA Syndrome tolerate Vitamin E supplementation. This is an experimental, non-FDA approved use of Vitamin E which will lead to further studies to evaluate if Vitamin E can be used as a treatment for HI/HA. The study involves taking Vitamin E once a day for two weeks at home, completing a tolerability questionnaires, and two, one-day visits to the CHOP outpatient Center for Human Phenomic Science (one visit before and one visit after taking the Vitamin E supplement for two weeks). During each study visit, fasting oral protein tolerance will be performed and blood samples will be drawn.