hrp0089p3-p118 | Diabetes & Insulin P3 | ESPE2018

Ketogenic Diet in a Child with Diabetes and Global Developmental Delay

Win Myat , Rajalingam Usha , Goonetilleke Rajiv

Effective management of Type 1 diabetes can be challenging. We would like to discuss the management of a 7 year old boy with Type 1 Diabetes, Lissencephaly and global severe developmental delay with medically refractory epilepsy who was introduced to and managed on a Ketogenic diet to try and improve his seizure control. He is non mobile and non-verbal and purely gastrostomy fed. He has diagnoses including. Lissencephaly and band heterotopia, absent corpus callosum, microcepha...

hrp0082fclb6 | Late Breaking Abstracts | ESPE2014

Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

Munns Craig , Shaw Nick , Kiely Mairead , Specker Bonny , Thacher Thomas , Hogler Wolfgang

Background: Vitamin D and/or calcium deficiency are very common in many areas worldwide, causing nutritional rickets, osteomalacia, hypocalcaemic seizures, cardiomyopathy, and muscle weakness. Nutritional rickets is defined as impaired mineralization at the growth plate. Untreated rickets leads to bone deformity, disability, obstructed labor, and reduced quality of life. The prevalence of nutritional rickets is increasing globally.Objective and methods: ...

hrp0082wg8.1 | GPED | ESPE2014

Global Pediatric Endocrinology and Diabetes: Opportunities and Call for Membership Involvement

Chanoine Jean-Pierre

Global Pediatric Endocrinology and Diabetes (GPED) aims at addressing needs that are common to all societies and is not intended to duplicate the specific societies’ activities. GPED’s website (www.globalpedendo.org) allows for registration of members as well as for a search function.Specific existing and potential projects include:i) Preventing redundancy of resources: developme...

hrp0089p1-p038 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Disease Burden and Systemic Manifestations of HPP in Children Enrolled in the Global HPP Registry

Hogler Wolfgang , Langman Craig , Gomes Da Silva Hugo , Fang Shona , Linglart Agnes , Ozono Keiichi , Petryk Anna , Rockman-Greenberg Cheryl , Seefried Lothar , Kishnani Priya

Hypophosphatasia (HPP) is a rare, inherited, systemic disease caused by mutation(s) of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP), resulting in deficient ALP activity. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset HPP. The global HPP Registry is an observational, prospective, multinational study (NCT02306720; EUPAS13514) established to collect real world clinical data from patients of a...

hrp0097fc2.2 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

First Results of the Global ALPL Gene Variant Classification Project

R Farman Mariam , Rehder Catherine , Malli Theodora , Rockman-Greenberg Cheryl , Dahir Kathryn , Ángel Martos-Moreno Gabriel , Linglart Agnès , Ozono Keiichi , Seefried Lothar , del Angel Guillermo , Högler Florian , Barbazza Francesca , K John Lisa , M. A. Delana Mudiyanselage Sewmi , Burner Nading Erica , Huggins Erin , T Rush Eric , El-Gazzar Ahmed , S Kishnani Priya , Webersinke Gerald , Högler Wolfgang

Background: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase. A major challenge in diagnosing HPP is interpreting variants in ALPL classified as variants of uncertain significance (VUS) according to ACMG/AMP criteria, creating uncertainty in patients and treating physicians resulting in d...

hrp0095p1-91 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Global microRNA and protein expression in human term placenta may improve our understanding of fetal growth

Östling Hanna , Lodefalk Maria , Backman Helena , Kruse Robert

Introduction: The placenta is an endocrine organ vital to fetal growth. It has multiple functions: pregnancy maintenance, nutrient and oxygen transport to the fetus, and removal of waste products among other functions. MicroRNAs (miRNAs) and proteins are significant mediators of these functions. A description of their global expression in healthy placenta may increase our understanding of the molecular biological pathways that are important for normal fetal gr...

hrp0094p1-12 | Bone A | ESPE2021

Real-world clinical profiles of children with hypophosphatasia (HPP) from the Global HPP Registry

Martos-Moreno Gabriel , Linglart Agnes , Petryk Anna , Kishnani Priya , Rockman-Greenberg Cheryl , Dahir Kathryn , Seefried Lothar , Fang Shona , Ozono Keiichi , Hogler Wolfgang ,

Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue non-specific alkaline phosphatase (TNSALP). In children, HPP has a heterogeneous clinical presentation, frequently with nonspecific musculoskeletal and systemic manifestations, often leading to misdiagnoses and substantial delays in diagnosis. Data from 323 children with confirmed HPP diagnosis (aged <18 years, ALP activity below the reference range and/or ALPL mut...

hrp0094p2-227 | Fat, metabolism and obesity | ESPE2021

Global survey study of awareness, care and treatment of adolescents living with obesity, their caregivers and healthcare professionals: ACTION Teens

Halford Jason C.G. , Baur Louise , Bereket Abdullah , Bin-Abbas Bassam , Chen Walter , Fernandez-Aranda Fernando , Garibay-Nieto Nayely , Pedro Lopez Siguero Juan , Maffeis Claudio , Mooney Vicki , Karenina Osorto Cynthia , Reynoso Ricardo , Rhie Young-Jun , Toro-Ramos Martin ,

Background: Obesity rates in children and adolescents have increased dramatically across the globe, and the lifelong impact of obesity is more severe when onset begins at ≤20 years of age. However, the experiences, challenges and needs of adolescents living with obesity (ALwO), their caregivers, and the healthcare providers (HCPs) who treat them are poorly understood. ACTION Teens, the first study of its kind, aims to improve the lives of ALwO by generat...

hrp0094ha1 | A Global Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP): 36-Month Outcomes in Participants Aged &lt;25 Years | ESPE2021

A Global Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP): 36-Month Outcomes in Participants Aged <25 Years

Pignolo Robert J. , Baujat Genevieve , Brown Matthew A. , De Cunto Carmen L. , Hsiao Edward C. , Keen Richard , Al Mukaddam Mona , Le Quan Sang Kim-Hanh , Marino Rose , Houchard Aude , Kaplan Frederick S. ,

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification (HO) following flare-ups. The median age at diagnosis is 5 years, and patients are managed by multiple specialties. No study to date has provided a longitudinal evaluation of FOP. Final data are presented for participants, aged <25 years, enrolled in the first 36-month, prospective, global natural history study of FOP (NCT02322255).</...

hrp0095p2-158 | Growth and Syndromes | ESPE2022

Global recall of a growth hormone jet delivered device: experiences with children forced to switch from a needle free system to a growth hormone device with needle.

P. van Eck Judith , S. Renes Judith , J.C. Sas Theo , L.T. van den Akker Erica , C.M. van der Kaay Daniëlle

Introduction: Growth hormone (GH) treatment is essential for growth in children with GH deficiency. Also short children born small for gestational age (SGA), and children with syndromes like Turner Syndrome (TS), Noonan Syndrome (NS) and Silver Russel Syndrome (SRS) can benefit from GH treatment. For children with needle anxiety GH delivered by a jet device can be a solution for the daily subcutaneous treatment for many years. In 2021, a global recall of the o...