Advancement of Hyperinsulinism Care and Research



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The Advancement of Hyperinsulinism Care and Research program brings together researchers specializing in molecular genetics and biology, metabolomics and cellular functionomics, and pharmacokinetics and drug development — all of whom work collaboratively to better understand how to diagnose and treat hyperinsulinism (HI).

HI is a rare disease caused by dysregulated insulin secretion from beta-cells in the pancreas, and it's one of the most challenging diagnoses encountered by pediatric endocrinologists. Its management requires cooperation between multiple disciplines. Recognizing the need for a systematic approach to care underscored by sound research evidence, CHOP founded the Congenital Hyperinsulinism Center within the Division of Endocrinology and Diabetes in 1998. This created the first multidisciplinary team dedicated to the care of children with hyperinsulinism.

The Advancement of Hyperinsulinism Care and Research translational and clinical research program brings forward scientific advances:

  • To study and characterize the molecular mechanisms of HI
  • To develop state-of-the-art tools for the diagnosis of HI
  • To use the team's expert understanding of HI genomics and pathophysiology to develop novel therapies for different forms of HI and be a global leader in hyperinsulinism clinical trials.

The Advancement of Hyperinsulinism Care and Research program established a carefully phenotyped and genotyped patient cohort of thousands of individuals with congenital hyperinsulinism that supports research investigations describing novel molecular mechanisms of disease, clinical presentation and natural history of different HI subtypes, and patient outcomes.

The largest unmet medical need in the field of hyperinsulinism is safer and more effective medical treatments. Clinicians and scientists are working with the Advancement of Hyperinsulinism Care and Research Program to test a new drug that can be used to treat severe forms of HI, in addition to collaborating with industry to test other new therapy options. With the team's historical and ongoing research endeavors, the Advancement of Hyperinsulinism Care and Research Program will continue to be the world leader in hyperinsulinism research.

Here are some highlights of the program's research efforts:

  • 18F-DOPA PET/CT scan the identification of focal HI lesions
  • Exendin(9-39) for the treatment of diffuse hyperinsulinism
  • Genetic and phenotypic characterization of thousands of individuals with HI
  • Bihormonal Bionic Pancreas for the treatment of HI and post-pancreatectomy diabetes
  • Vitamin E supplementation for individuals with Hyperinsulinism/Hyperammonemia syndrome
  • Dasiglucagon for treatment of diffuse hyperinsulinism
  • Neurodevelopmental outcomes in children with Perinatal Stress-Induced HI
  • Novel brain imaging of individuals with Hyperinsulinism/Hyperammonemia syndrome