ESPE Abstracts

Background: Glibenclamide has proven to be efficient for patients with neonatal diabetes owing to potassium channel mutations. We developed a suspension of glibenclamide (EMA CHMP Authorization February 2018) fitting recommendations of drug administration to allow a precise dosage. We reported it to be practical, efficient and well tolerated after 3 months of use.Objective: To determine long term efficiency and tolerance of a new suspension of glibenclam...

Objective: Fear of hypoglycemia interferes frequently with metabolic control of type 1 diabetes especially in patients under 5 years of age who are at high risk of hypoglycemia and low metabolic control. Medtronic Minimed 640 G insulin pump with Smart Guard technology (suspension of insulin perfusion in predictive hypoglycemia situations) appears to be an adequate system for these patients by reducing the risk of hypoglycemia.Research design and methods:...

Background: The majority of children with short stature are classified as idiopathic short stature. Whole exome sequencing can help identify genetic causes of short stature.Methods: We recruited 10 children with short stature of unknown etiology. We conducted whole exome sequencing of the patients and their family members. We used an analysis pipeline to identify rare nonsynonymous genetic variants that might cause the short stature. All rare allelic var...

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder. Recombinant human insulin-like growth factor (IGF-1) (rhIGF-1; Increlex® [mecasermin]) replacement therapy is EU and US-approved for treating growth failure due to SPIGFD. The long-term therapeutic objective of rhIGF-1 treatment in SPIGFD is to improve adult height (AH). Objective: to describe the characteristics, safety and effectiveness data ...

Background: The Global Increlex® Registry (NCT00903110) monitors real-world safety and effectiveness of recombinant human insulin-like growth factor (rhIGF-1; Increlex® [mecasermin]) in severe primary IGF-1 deficiency (SPIGFD). Patient characteristics, effectiveness and safety data from 2008–2023 are described.Methods: Descriptive analyses of registry data from children/adolescents age...

Introduction: Familial glucocorticoid deficiency (FGD), also known as hereditary resistance to ACTH, is a rare autosomal recessive disease characterized by an isolated deficiency of glucocorticoids. We report the case of a child who presented with type 1 FGD due to mutation of the ACTH receptor, melanocortin-2 receptor (MC2R), associated with monosomy 9p.Case presentation: A 1-day-old female patient was born to consangui...

Background: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, with an incidence of 1:3000 neonates, and one of the most frequent preventable causes of mental retardation worldwide. Most (65%) cases of primary permanent CH are due to thyroid dysgenesis (TD). However, a genetic cause is identified in less than 5% of CH due to DT.Methods: We performed WES (Whole Exome Sequencing) for siblings with childhood-onset TD and we analy...

Background: Growth hormone (GH) replacement therapy usually requires daily subcutaneous (s.c.) injections that can be burdensome for patients and their caregivers. Long-acting GH formulations aim to establish a less burdensome dosing regimen that is as safe and efficacious as daily GH to potentially improve adherence and clinical outcomes. Somapacitan, a long-acting reversible albumin-binding GH derivative, is in development for once-weekly s.c. administration...

Daily subcutaneous (s.c.) injections of growth hormone (GH) to treat GH deficiency (GHD) in children is burdensome for both patients and caregivers. Somapacitan (Novo Nordisk) is a long-acting reversible albumin-binding human GH derivative in development for once-weekly s.c. administration in children with GHD, and aims to overcome the treatment burden of daily injections. REAL4 is a multi-national, randomised, open labelled phase 3 trial with a 52-week main phase followed by ...

Somapacitan (Novo Nordisk A/S) is a long-acting GH derivative, approved for once-weekly administration in children and adults with GHD. IGF-I is monitored and includes a fraction bound to binding proteins, e.g., IGF binding protein-3 (IGFBP-3). The IGF-I/IGFBP-3 molar ratio can be used as surrogate marker for freely circulating bioactive IGF-I. REAL4 is a randomised, open-label, multi-national phase 3 trial (NCT03811535) with a 52-week main phase and a 3-year extension (week 5...