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hrp0094p2-235 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

A Selective Nonpeptide Somatostatin Receptor 5 (SST5) Agonist Effectively Decreases Insulin Secretion in a KATPHI Mouse Model and in Human HI Islets

Juliana Christine , Chai Jinghua , Arroyo Pablo , Rico-Bautista Elizabeth , Betz Stephen , De Leon Diva ,

Inactivating mutations of ß-cell KATP channels cause the most common and severe form of congenital hyperinsulinism (HI), a ß-cell disorder that results in dysregulated insulin secretion and persistent hypoglycemia. Children with KATPHI are typically unresponsive to diazoxide, the only FDA-approved drug for HI. Octreotide, an SST2-selective agonist peptide that inhibits insulin secretion, is used as second line therapy, but poor efficacy and SST2...

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hrp0097rfc10.3 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

Non-coding Variants in HK1 Account for 5% of Cases of Congenital Hyperinsulinism Without an Identified Genetic Cause

Rosenfeld Elizabeth , E. Boodhansingh Kara , A. Stanley Charles , Ganguly Arupa , D. De Leon Diva

Background: The genetic etiology of non-syndromic HI remains unknown in over 20% of all cases, and over 50% of diazoxide-responsive cases. Non-coding variants in HK1 have been suggested to cause HI by linkage-analysis (Pinney et al., 2008). More recently, variants within a regulatory region of HK1 intron 2 were reported in 17 individuals with HI (Wakeling et al., 2022). These variants have been proposed to cause HI by disrup...

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hrp0095fc11.3 | Late Breaking | ESPE2022

Dasiglucagon Significantly Reduces Requirement for Intravenous Glucose in Children with Congenital Hyperinsulinism ages 7 Days to 12 Months

De Leon Diva D. , Banerjee Indraneel , M Kendall David , Birch Sune , Bøge Eva , Ivkovic Jelena , Thornton Paul S

Background: Congenital hyperinsulinism (CHI) is a rare disease affecting neonates, infants, and children. CHI is characterized by dysregulated insulin secretion resulting in severe recurrent hypoglycemia. Early treatment is necessary to limit the risk of neurologic and developmental sequelae. Current treatment options are limited and inadequate. Dasiglucagon (DASI) is a glucagon analog suitable for continuous subcutaneous infusion which has been shown to raise...

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hrp0095fc3.2 | Early Life and Multisystem Endocrinology | ESPE2022

Results from a Global, Multi-Center, Phase 2b Study (RIZE) in Congenital Hyperinsulinism: Characterization of a High Unmet Treatment Need and Glycemic Response to RZ358

Demirbilek Huseyin , Melikyan Maria , Galcheva Sonya , Dastamani Antonia , Thornton Paul , De Leon Diva , Raskin Julie , Roberts Brian , Hood Davelyn , O'Boyle Erin , Christesen Henrik

Background: Congenital Hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in children. Persistent hypoglycemia places patients at risk for adverse clinical outcomes, and current guidelines recommend maintaining plasma glucose >3.9mmol/l. CHI patients often have substantial, residual hypoglycemia and fail to meet treatment goals with currently available standard of care (SOC) therapies. In this study, we aimed to characterize...

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hrp0095rfc11.5 | Late Breaking | ESPE2022

Dasiglucagon Treatment Over 21 days in Infants with Congenital Hyperinsulinism Results in Glycaemic Stability and Reduces Requirement for Intravenous Glucose

Banerjee Indraneel , D. De Leon Diva , M. Kendall David , Birch Sune , Bøge Eva , Ivkovic Jelena , S Thornton Paul , Nurdan Ciftci , Huseyin Demirbilek

Background: Congenital hyperinsulinism (CHI) is a chronic and complex rare endocrinopathy with dysregulated insulin secretion causing severe and recurrent hypoglycemia resulting in adverse neurologic and developmental sequelae in children. Current treatment options are limited and often inadequate to treat CHI. Dasiglucagon (DASI), a glucagon analog administered by subcutaneous continuous infusion, has demonstrated reduction in glucose infusion rate (GIR) in P...