hrp0095p1-513 | Growth and Syndromes | ESPE2022

Long-term effectiveness and safety of childhood growth hormone treatment in Turner syndrome from two large observational studies

Backeljauw Philippe , Pietropoli Alberto , Rohrer Tilman

Patients with Turner syndrome (TS) have short stature, despite having normal growth hormone (GH) secretion. Treatment with recombinant human GH is recommended. The effectiveness and safety of Norditropin® (somatropin, Novo Nordisk) over ≤10 years of follow-up were investigated in two non-interventional studies: NordiNet® IOS (NCT00960128) and the ANSWER Program (NCT01009905). Of 2,409 children with TS, 2,377 were included in the full analysis s...

hrp0089p1-p162 | Growth & Syndromes P1 | ESPE2018

Comparing the Cumulative Dose of Growth Hormone Therapy Using Body Weight-Based Dosing Versus Body Surface Area-Based Dosing in Children with Turner Syndrome – Data from the ANSWER Study

Backeljauw Philippe , Geffner Mitchell , Ross Judith , Holot Natalia , Ostrow Vlady

Background and Objective: The American Norditropin Studies: Web-Enabled Research (ANSWER) Program is a long-term, US-based, non-interventional study designed to collect information on the effectiveness and safety of Norditropin® growth hormone (GH). From June 2002 to September 2016, 20,204 pediatric patients were enrolled by their treating physicians, including 1,003 patients with Turner syndrome (TS). This analysis compares cumulative GH doses when adjusting G...

hrp0092p2-178 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Adult Height of Patients Enrolled in PATRO Children, An Ongoing Observational Study of the Long-term Safety And Effectiveness Of Omnitrope®

Kanumakala Shankar , Backeljauw Philippe , Otfried Schwab Karl , Loche Sandro , Zabransky Markus , Zouater Hichem

Objectives: PATRO Children is an observational, international, longitudinal study of the long-term safety of a recombinant human growth hormone (rhGH; Omnitrope®, Sandoz). The effect of rhGH treatment on growth and adult height (AH) is assessed as a secondary objective of the study.Methods: This ongoing study is conducted in hospitals and specialised endocrinology clinics across 14 countries. The study po...

hrp0089p1-p163 | Growth & Syndromes P1 | ESPE2018

The Association between Growth Hormone Dose and Short-Term Height Outcomes in a Large Cohort of Paediatric Patients with Turner Syndrome: Real-World Data from the NordiNet® International Outcome Study (IOS) and ANSWER Program

Blair Jo , Rohrer Tilman R. , Tonnes Pedersen Birgitte , Roehrich Sebastian , Backeljauw Philippe

Objectives: The recently updated clinical practice guidelines for Turner syndrome (TS) recommend a growth hormone (GH) dose of 45–50 μg/kg/day, increasing to 68 μg/kg/day in case adult height potential is substantially compromised (1). Real-world data on the modifiable factors impacting near-adult height in GH-treated TS patients are limited, but short-term responsiveness to GH has been suggested as one factor (2). We, therefore, analysed the impact of GH dose o...

hrp0086fc8.3 | Growth: Clinical | ESPE2016

PAPP-A2 Gene Mutation Effects on Glucose Metabolism and Bone Mineral Density and Response to Therapy with Recombinant Human IGF-I

Salcedo Catalina Cabrera , Hwa Vivian , Tyzinski Leah , Andrew Melissa , Wasserman Halley , Backeljauw Philippe , Dauber Andrew

Background: PAPP-A2 (pregnancy-associated plasma protein A2) deficiency, caused by homozygous mutations in the PAPP-A2 gene results in a novel syndrome of significant growth failure. PAPP-A2 cleaves IGF binding proteins 3 and 5, thereby freeing IGF-I from its ternary complex and allowing it to become biologically active. We recently reported the first two families with PAPP-A2 mutations. Response to recombinant human IGF-I (rhIGF-1) in these patients is unknown.<p class="a...

hrp0086rfc14.3 | Growth : Mechanisms | ESPE2016

Whole Exome Sequencing Identifies a GH1 Gene Mutation Causing Familial Isolated Growth Hormone Deficiency with Normal Peak Growth Hormone Concentrations

Salcedo Catalina Cabrera , Hwa Vivian , Tyzinski Leah , Andrew Melissa , Backeljauw Philippe , Dauber Andrew

Background: Familial isolated growth hormone deficiency (IGHD) type II is autosomal dominantly inherited and caused by splice-site mutations and nucleotide substitutions in the GH1 gene. The missense mutation R183H is a well-described genetic variant that causes familial IGHD type II. Individuals with this mutation have releasable GH stores, but GH secretion is severely reduced resulting in short stature.Objective and hypotheses: This study aimed to repo...

hrp0097p1-112 | Growth and Syndromes | ESPE2023

Treatment of Short Stature in Aggrecan Deficient Patients with Recombinant Human Growth Hormone: Three-Year Growth Response

Muthuvel Gajanthan , Dauber Andrew , Alexandrou Eirene , Tyzinski Leah , Andrew Melissa , Hwa Vivian , Backeljauw Philippe

Background: Aggrecan (ACAN) is a proteoglycan found in the extracellular matrix of articular and growth plate cartilage. Animal studies have shown that mutations in the ACAN gene lead to premature hypertrophic chondrocyte maturation, causing accelerated cartilage ossification. Patients with ACAN deficiency present with dominantly inherited short stature, often with advanced skeletal maturation and premature growth cessation, as well as early-onset joint diseas...

hrp0095p1-305 | Growth and Syndromes | ESPE2022

Once-Weekly Somapacitan vs Daily Growth Hormone in Children Born Small for Gestational Age: 1-year Results from a Randomised Phase 2 Trial

Juul Anders , Backeljauw Philippe , Bakhtadze Bagci Ekaterine , Højby Michael , Kawai Masanobu , Juul Kildemoes Rasmus , Linglart Agnès , Zuckerman-Levin Nehama , Horikawa Reiko

Treatment of short stature in children born small for gestational age (SGA) requires daily growth hormone (GH) injections that can be burdensome for patients and caregivers. Once-weekly somapacitan is a long-acting GH in phase 3 development for replacement therapy in children with GH deficiency. We report the 52-week results of the first phase 2, multinational, randomised, open-label, controlled, dose-finding trial (NCT03878446) investigating efficacy and safety of somapacitan...

hrp0097fc14.5 | Late Breaking | ESPE2023

Predicting Average IGF-I Concentration for Once-Weekly Somapacitan in Children with Growth Hormone Deficiency

F. Backeljauw Philippe , Kamal Lyauk Yassine , C. Blair Joanne , S. Miller Bradley , Mori Jun , Højby Rasmussen Michael , Juul Kildemoes Rasmus

Growth hormone (GH) stimulates insulin like growth factor I (IGF I) release. IGF-I is the standard biomarker for monitoring GH effects during treatment and to achieve optimal long-term safety, and to a limited extent, monitor efficacy in children with GH deficiency (GHD). The IGF I profile during treatment with a long acting GH (LAGH), such as once weekly somapacitan (Novo Nordisk), differs from the daily GH profile by exhibiting larger peaks and troughs over the dosing interv...