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.

Dr. Weber at The Children's Hospital of Philadelphia is looking for boys and young men with Duchenne Muscular Dystrophy between 5-20 years old to participate in a study to learn more about bone health. Study participation includes completing two study visits: one baseline visit and one 12-month follow-up visit. To be eligible, participants must have used steroids for a minimum of 12 months by the time they complete their baseline visit. Eligible study participants will be paid for each study visit. If interested in hearing more about this study or being screened for eligibility, please contact Dr. David Weber at davidweberresearch@chop.edu.

This study is a randomized, double-blind, placebo-controlled study that will evaluate the safety and efficacy of dasiglucagon in children between the ages of 7 days and 12 months who have congenital hyperinsulinism. Dasiglucagon will be given as a subcutaneous infusion while patients are admitted to the hospital. Other treatments for hyperinsulinism may be changed as allowed while maintaining safe blood sugar levels. For the second part of the study, patients may be able to go home on the medication.

Our team at the Congenital Hyperinsulinism Center at CHOP is working on a research study to determine whether an experimental gene therapy product, DTX401, is safe and effective in people with glycogen storage disease type Ia (GSDIa). The FDA has not approved this drug for the treatment of GSDIa but has approved us to use this drug as part of this clinical trial. The purpose of this research study is to see if DTX401 can help people with GSDIa have normal blood sugar levels and fewer episodes of hypoglycemia. DTX041 works by delivering copies of the G6PC gene to your liver through a one-time infusion. Participation in this study will last for 2 years and will involve 30 study visits. It is possible that treatment with the study drug infusion may improve your blood sugar levels. Travel costs will be covered by the study and you will receive compensation for participating.

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.