Leveraging Human iPSC Derived Beta Cells to Investigate the Impact of Novel Therapeutics in Patients with Congenital Hyperinsulinism

Awardee: Mansa Krishnamurthy

Institution: Cincinnati Children's Hospital Medical Center

Grant Amount: $77,165

Funding Period: February 1, 2025 - January 31, 2026


Summary:

Congenital Hyperinsulinism (CHI), the most common etiology of persistent hypoglycemia in infants and children, can be due to mutations in KATP channels, transcription factors and enzymes. Current treatment approaches include a medication called Diazoxide. Unfortunately, this medication is associated with significant side effects including fluid retention, bone marrow suppression and severe vomiting, emphasizing the need for alternative therapies with improved safety profiles. Recently, several promising candidates have emerged with the potential to suppress insulin secretion in CHI, including exendin (9-39) and compounds SW269324 and SW297577. In our lab, we can turn stem cells from patients with CHI into pancreatic beta cells, allowing us to test the effects of exendin (9-39), SW269324 and SW297577 on insulin secretion. In this proposal, we will use patient derived beta cells from ABCC8, HADH and FOXA2 to investigate the effects of exendin (9-39), SW269324 and SW297577 on insulin secretion alone and in addition to diazoxide. Through these studies, we hope to better understand the pathophysiology of CHI and develop a more personalized treatment approach for patients with CHI.

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Assessing Excitation-Transcription Coupling in SCN2A-Related Disorder Mouse Models

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Safety, Accuracy, and Feasibility of Continuous Glucose Monitoring in Infants in the Inpatient NICU Setting with Hyperinsulinism and Hypoglycemia