hrp0086wg4.4 | ESPE Bone and Growth Plate Working Group (BGP) | ESPE2016

“A Clinical and Genetic Approach to Diagnosis and Treatment of Fractures in Infancy”

Semler Oliver

Nearly 30% of children suffer a fracture during till the end of growth. Most of these fractures are accidental fractures and many are located at the forearm. Non accidental fractures can by caused due to an appropriate force (e.g. child abuse) or can be classified as pathological fractures which are often caused by benign tumours like bone cysts, non-ossifying fibroma or fibrous dysplasia. Most reasons for fractures can be detected by carefully recording the medical history of...

hrp0084p3-664 | Bone | ESPE2015

Short Stature in Osteogenesis Imperfecta is not Caused by Deficiencies in IGF1 or IGF-BP3

Semler Oliver , Hoyer-Kuhn Heike , Allo Gabriel , Schoenau Eckhard

Background: Osteogenesis imperfecta is a rare collagen related hereditary disease leading to recurrent fractures, reduced mobility, muscular weakness and short stature.Objective and hypotheses: It was always discussed if the reduced height is a consequence of the impaired collagen production, a reaction of the body to the brittleness of bones or if the patient might suffer from an additional deficiency of growth hormone (GH).Method...

hrp0086p1-p142 | Bone & Mineral Metabolism P1 | ESPE2016

Effect of Bisphosphonates and Denosumab on Trabecular Bone: Results of a Pilot Study in Children with Osteogenesis Imperfecta

Rehberg Mirko , Semler Oliver , Hoyer-Kuhn Heike , Schonau Eckhard , Winzenrieth Renaud

Background: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder due to mutations related to collagen type 1. OI presents itself with low bone mass, resulting in high bone fragility. Bone mass is relevant for determination of the severity of OI. Although bisphosphonate treatment is able to increase areal bone mineral density (aBMD) measured by DXA, there is no correlation to fracture rates.Objective and hypotheses: The aim of this stud...

hrp0082p1-d3-56 | Bone (1) | ESPE2014

Effect of a Vibration Based Rehabilitation Concept On Bone and Muscle Development in Children with Osteogenesis Imperfecta

Semler Oliver , Hoyer-Kuhn Heike , Stark Christina , Struebing Nora , Goebel Oranna , Schoenau Eckhard

Introduction: Osteogenesis imperfecta is a rare disease leading to immobility by recurrent fractures, hyperlaxicity of ligaments, short stature and muscular weakness. Beside drug treatment and surgical procedures physiotherapy is one of the most important treatment approaches to increase mobility. The objective of our analysis was to evaluate the effect of a new standardized 12 months physiotherapy concept including whole body vibration over 6 months on motor function and bone...

hrp0082p2-d1-285 | Bone | ESPE2014

Mutations in IFITM5 Leading to Prenatal and Postnatal Signs of Dominant Osteogenesis Imperfecta

Hoyer-Kuhn Heike , Netzer Christian , Becker Jutta , Schoenau Eckhard , Semler Oliver

Introduction: Osteogenesis imperfecta (OI) is a hereditary disease characterized by a wide range of skeletal signs. Mutations in COL1A1/A2 have been known to cause dominant OI. Recently, a heterozygous mutation in the 5′-UTR of IFITM5 (c.−14C>T) was identified as a new cause of dominant OI. We present three patients from three different families with two mutations in IFITM5 with extremely different phenotypes.Description...

hrp0084p1-13 | Bone | ESPE2015

Osteogenesis Imperfecta: A Pilot Trial on Treatment with the RANKL-Antibody Denosumab

Hoyer-Kuhn Heike , Netzer Christian , Hero Barbara , Schoenau Eckhard , Semler Oliver

Background: Osteogenesis imperfecta (OI) is a rare disease leading to an increased bone fragility due to a reduced bone mass. Pathological fractures are the most severe symptom. More than 85% of patients are affected by mutations in COL1A1/A2 impairing quantity and quality of collagen. No approved drugs for OI treatment in childhood are available.Objective and hypotheses: A prospective pilot study was performed to assess safety and effi...

hrp0094p2-262 | Growth hormone and IGFs | ESPE2021

A Survey on Clinician Perceptions of Long-Acting Growth Hormone Analogs

Howard-James Naomi , Padidela Raja , Raimann Adalbert , Gevers Evelien , Semler Oliver , McDonnell Ciara ,

Background: Daily recombinant human growth hormone (rhGH) has been utilized since 1985 and has been proven to increase height velocity and improve body composition in growth hormone deficiency, various genetic syndromes and chronic kidney disease. Safety and efficacy are well established. Long-acting growth hormone (LAGH) analogs have been developed to improve compliance and patient experience. There are several LAGH preparations in development or early commer...

hrp0095rfc2.1 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Muscle function in XLH - Two year prospective observation of paediatric patients before and after treatment initiation with burosumab

Rehberg Mirko , Heistermann Johanna , Neuburg Lisa , Schönau Eckhard , Hoyer-Kuhn Heike-Katharina , Semler Oliver

X-linked hypophosphatemia (XLH, MIM 307800) is a rare hereditary disorder of bone metabolism characterized by growth impairment, leading to bone deformities and short stature and beside others to muscle function deficits. XLH is caused by defect of endopeptidase PHEX leading to high levels of FGF-23 and thereby renal phosphate wasting. While conventional treatment includes substitution of phosphate and 1-25 OH-Vitamin D, now a treatment with a FGF-23 antibody (burosumab) is av...

hrp0094p2-98 | Bone, growth plate and mineral metabolism | ESPE2021

BUR-CL207: An Open-label, Multicenter, Non-randomized Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Pediatric Patients from Birth to Less than 1 Year of Age with XLH.

Padidela Raja , Cheung Moira , Allgrove Jeremy , Bacchetta Justine , Semler Oliver , Heubner Angela , Schnabel Dirk , Emma Franceso , Nilsson Ola , Hogler Wolfgang , De La Cerda Ojeda Francisco , Quattrocchi Emilia , Linglart Agnes ,

Background: X-linked hypophosphatemia (XLH) is caused by mutations in PHEX which increases serum Fibroblast Growth Factor 23 (FGF23) concentrations leading to phosphate wasting and osteomalacia. Burosumab is a recombinant fully human IgG1 monoclonal antibody which selectively inhibits the activity of FGF23. In clinical trials burosumab demonstrated significant clinical improvements in radiological rickets severity, growth, and biochemistry among XLH c...

hrp0095p1-223 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Real-world data in children with achondroplasia after licensing of Vosoritide

Palm Katja , Bechthold-Dalla Pozza Susanne , Gausche Ruth , Högler Wolfgang , Hoyer- Kuhn Heike , Hübner Angela , Keller Alexandra , Mirante Alice , Mohnike Klaus , Muschol Nicole , Nader Sean , Pfäffle Roland , Quitter Friederike , Rohrer Tilmann , Rutsch Frank , Schnabel Dirk , Semler Oliver , Silva Isabel , B. Sousa Sérgio , M.K. Voelkl Thomas , Wechsung Katja , Weigel Johannes , Woelffle Joachim , Lausch Ekkehart

Background: Achondroplasia (ACH), caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), is characterized by severe growth failure and may be associated with multisystemic complications. The clinical phenotype is variable and relates to deformity of rhizomelic shortened legs, and myelon compression at cranial base and spine. Recent guidelines are published for diagnostic workflow, neurosurgical, orthopaedic and otorhinolaryngol...