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Research Studies

Congenital Hyperinsulinism Research Studies

Eligible age

Clinical trial phase

Research Study for Individuals with Hyperinsulinism, Type 1 Diabetes Mellitus, and Healthy Children

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.

Phase: N/A

Actively recruiting: Yes

Category: Adults, Children, Healthy Controls, MRI/Imaging Studies, One-Time Visit Studies

Conditions: Congenital Hyperinsulinism

Research Study for Individuals with Hyperinsulinism/Hyperammonemia

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.

Phase: Pilot

Actively recruiting: No

Category: Adults, Children, MRI/Imaging Studies, One-Time Visit Studies

Conditions: Congenital Hyperinsulinism

Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia (HI/HA) Syndrome

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.

Phase: Pilot

Actively recruiting: No

Category: Adults, Children, One-Time Visit Studies

Conditions: Congenital Hyperinsulinism

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