hrp0095p1-491 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Utilizing PES hypoglycemia guidelines to evaluate presence of known risk factors in HI Global Registry participants

Pasquini Tai , Raskin Julie

Congenital Hyperinsulinism (HI) causes severe hypoglycemia. In most countries, the estimated incidence of HI is approximately 1/25,000 to 1/50,000 births, classifying it as a rare disease. According to Pediatric Endocrine Society (PES) Guidelines, neonates should be screened for hypoglycemia if they have any of the following: symptoms of hypoglycemia, large for gestational age, perinatal stress, premature or postmature delivery, infant of diabetic mother, family history of a g...

hrp0094p2-234 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Continuous Glucose Monitoring (CGM) Reveals Undertreated Hypoglycemia in Patients with Congenital Hyperinsulinism

Hood Davelyn E. , Roberts Brian K. , Neale Ann , Raskin Julie ,

Introduction: Congenital Hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in children. Despite current treatments, patients/caregivers report continued hypoglycemia according to the HI Global Registry 2020 Annual Report. Published literature characterizing hypoglycemia in CHI patients on standard of care (SOC) therapies is lacking.Objective: To quantify the extent of hypoglycemia in CHI...

hrp0094p2-244 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Genetic Testing Access and Results for Patients with Congenital Hyperinsulinism as Conducted through the CHI and University of Exeter Partnership

Pasquini Tai L.S. , Houghton Jayne A.L. , Mesfin Mahlet , Flanagan Sarah E. , Raskin Julie ,

Background and Aims: Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies and children. The disease may occur in isolation or can present as part of a syndrome. Routine screening of the known etiological genes (n = >20) identifies a disease-causing mutation in 40-50% of all cases. An accurate and timely genetic diagnosis is clinically important for all individuals as understanding the unde...

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...

hrp0097p1-283 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Developing a Collaborative Research Network to Accelerate the Understanding and Treatment of the Rare Disease Congenital Hyperinsulinism

Pasquini Pasquini Tai , Raskin Julie , De León-Crutchlow Diva , Banerjee Indi , Christesen Henrik , Conwell Louise , Dastamani Antonia , Flanagan Sarah , Gillis David , Kalish Jennifer , Lord Katherine , Stanley Charles , Zangen David , Thornton Paul

Background: Congenital Hyperinsulinism International (CHI) is an international non-profit organization focused on improving the lives of patients and families living with hyperinsulinism (HI). Despite many advances in the care of patients with HI, long term neurologic outcomes have not significantly improved, highlighting the need for CHI’s goals for robust and rapidly translatable research. We describe the development of a collaborative research network...