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.
Congenital Hyperinsulinism is the most common cause of low blood sugar (hypoglycemia) in infants and children.Infants who are born with this problem have low blood sugar, which can cause seizures or brain damage.
We are doing this study to see if the patterns of abnormalities in controlling insulin in children and adults with hyperinsulinism are related to any underlying genetic cause and to identify possible new genetic causes.This will be done by standard clinical tests of insulin control: a glucose tolerance test, a protein tolerance test, and a fasting test.
The Congenital Hyperinsulinism Center at the Childrens Hospital of Philadelphia is working on a research study to better understand how people with hyperinsulinism may have different blood sugar responses to certain tests (like fasting or drinking a high-protein shake) when compared to people without hyperinsulinism. This study will involve a screening visit where we will ask you about your medical history and any known episodes of low blood sugar. Depending on your responses during the interview, you will be asked to complete up to five tests at our outpatient research center. These tests include fasting, drinking a high-protein shake, drinking a high-sugar drink, eating a regular meal, and exercising on a stationary bike. We will collect blood samples from an IV throughout the tests to measure certain blood levels like glucose and insulin. You will be compensated for some or all of your travel costs and you will receive payment for your time. If you are interested in learning more, please contact us at HIResearch@chop.edu.
Our team is working on a study to better understand neurological problems, including seizures and developmental delays, that occur in children with hyperinsulinism, including HI/HA syndrome, and type 1 diabetes mellitus. 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 five hours. If you are interested in learning more, please contact us at HIResearch@email.chop.edu.
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.