hrp0089rfc12.6 | Diabetes and Insulin 2 | ESPE2018

AMGLIDIA, a Suspension of Glibenclamide for Patients with Neonatal Diabetes, Long Term Data on Efficiency and Tolerance

Beltrand Jacques , Meyzer Candice , Colas Sandra , Semeraro Michaela , Godot Cecile , Treluyer Jean-Marc , Elie Caroline , Polak Michel

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...

hrp0089p2-p099 | Diabetes & Insulin P2 | ESPE2018

Metabolic Improvement Offered by Medtronic Minimed 640 G Associated to Transient Insulin Perfusion Suspension before Hypoglycemia in Young Patients with Type 1 Diabetes

Al Hage Chehade Ghada , Godot Cecile , Jourdon Isabelle , Lepage Nadine , Eve Schmidt Marie , Polak Michel , Beltrand Jacques

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:...

hrp0086rfc6.2 | Syndromes: Mechanisms and Management | ESPE2016

RAB3IP and DGCR8 as a Potentially Pathogenic Novel Candidate Gene Involving in Growth Disorders

Homma Thais , Funari Mariana , Lerario Antonio , Freire Bruna , Nishi Mirian , Yamamoto Guilherme , Naslavsky Michel , Zatz Mayana , Arnhold Ivo , Jorge Alexander

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...

hrp0097p1-506 | Growth and Syndromes | ESPE2023

Characteristics, effectiveness and safety data for patients with growth failure treated with recombinant IGF-1 and achieving adult or near-adult height: results from the Increlex® Global Registry

Bang Peter , Ramón Krauel Marta , Maghnie Mohamad , Woelfle Joachim , Sert Caroline , Perrot Valérie , Pennestri Daniele , Polak Michel

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 ...

hrp0098p1-63 | Growth and Syndromes 1 | ESPE2024

Long-term effectiveness and safety data from the Global Increlex® Registry in patients treated with rhIGF-1: Subgroup analysis of naïve pre-pubertal patients and patients with Laron syndrome

Ramón Krauel Marta , Woelfe Joachim , Polak Michel , Maghnie Mohamad , Beń-Skowronek Iwona , Sert Caroline , Perrot Valérie , Bang Peter

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...

hrp0098p2-299 | Late Breaking | ESPE2024

A novel mutation in type 1 familial glucocorticoid deficiency associated with a deletion of chromosome 9

Kherra Sakina , Bellouti Sihem , Mohamedi Kahina , Sifour Latifa , Sahli Hassiba , Bouferoua Fadila , Zeroual Zoulikha , Roucher Florence , Laurence Michel

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...

hrp0089fc5.1 | Thyroid | ESPE2018

Beta1-Tubulin Gene (TUBB1) Mutations Cause Thyroid Dysgenesis Associated to Abnormal Platelet Morphology and Hyper-Aggregation

Carre Aurore , Stoupa Athanasia , Adam Frederic , Kariyawasam Dulanjalee , Strassel Catherine , Gawade Sanjay , Szinnai Gabor , Kauskot Alexandre , Lasne Dominique , Janke Carsten , Natarajan Kathiresan , Schmitt Alain , Bole-Feysot Christine , Nitschke Patrick , Leger Juliane , Jabot-Hanin Fabienne , Tores Frederic , Michel Anita , Munnich Arnold , Besmond Claude , Scharfmann Raphael , Lanza Francois , Borgel Delphine , Polak Michel , Federation Parisienne pour le Depistage et la Prevention des Handicaps de l'Enfant FPDPHE Michel

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...

hrp0095rfc7.2 | Growth and Syndromes | ESPE2022

Once-Weekly Somapacitan vs Daily GH in Children with GH Deficiency: The Randomized Phase 3 REAL 4 Trial

Miller Bradley , Blair Joanne , Højby Michael , Böttcher Volker , Juul Kildemoes Rasmus , Maniatis Aristides , Beck Bang Rikke , Mori Jun , Polak Michel , Stagi Stefano , Horikawa Reiko

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...

hrp0097fc11.1 | GH and IGFs | ESPE2023

GH replacement therapy with once-weekly somapacitan in children with GH deficiency is effective and well-tolerated: 2-year results from REAL4

Miller Bradley , Blair Joanne , Højby Rasmussen Michael , Maniatis Aristides , Mori Jun , Böttcher Volker , Bang Rikke , Polak Michel , Horikawa Reiko

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 ...

hrp0098fc15.6 | Late Breaking | ESPE2024

Pharmacodynamic Endpoints After Once-Weekly Somapacitan in Children With GHD: 3-year results from REAL4 phase 3 study

S. Miller Bradley , C. Blair Joanne , Højby Rasmussen Michael , Maniatis Aristides , Mori Jun , Böttcher Volker , Kim Ho-Seong , Polak Michel , Horikawa Reiko

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...