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 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 has partnered with Moderna on a clinical trial for patients with glycogen storage disease type 1a (GSD1a). We would like to invite you to take part in a clinical trial for an mRNA investigational drug that could potentially correct the cause of GSD1a, by teaching your body to break down glycogen, correct low glucose, and avoid starch intake. The purpose of this trial is to see if a new investigational mRNA study drug, called mRNA-3745, is safe and if it works in the way researchers expect. mRNA technology uses messenger ribonucleic acid (mRNA), an instructional molecule that naturally occurs in the body and carries information to cells. In this case, we are studying if mRNA-3745 given through an IV infusion can instruct the body to make the protein that is missing in people with GSD1a.

mRNA-3725 is not approved by the FDA; the FDA has allowed us to provide this investigational medicine to patients enrolled in this phase 1/2 trial. Phase 1/2 clinical trials like this one aim to test the safety, side effects, and best dose of an investigational medication. In the phase 2 part, participants usually receive the highest dose of treatment discovered in the phase 1 part. This is the first study in which humans are administered this study drug.

If successful, mRNA-3745 would enable certain organs in the body to effectively break down glycogen and avoid low glucose levels and starch intake. If mRNA-3745 could correct the cause of GSD1a, it would help keep your glucose levels where they need to be all the time.

Participation in this clinical trial could last up to approximately two years, depending on which stage you enroll in and whether or not you decide to participate in the long-term follow-up period of the study. Some of the visits in this trial will require you to stay overnight at the hospital, and some of the visits will require you to visit the hospital or doctor's office. Most of the visits in this clinical trial can be done at your home, where a home health nurse will perform the assessments needed.

All study-related procedures, travel, and compensation are provided.

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.

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 clinical drug trial that involves giving you a study drug that is not FDA-approved called RZ358. The goal of the trial is to test the study drug safety, how your body processes the drug, how the drug affects your body, and see if it can increase your blood sugar. If you agree to take part, your participation will last for up to 27 weeks and include 4 weeks of screening, 8 weeks of treatment, and a 15 week follow-up period. It is possible that treatment with the study drug infusions may improve your blood sugar levels and/or reduce the use of other medication(s) to prevent hypoglycemia. For more information, contact us at HIResearch@email.chop.edu.