hrp0089p2-p054 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Effect of Pubertal Inductionn Bone Mass Accrual, in Adolescent Boys with Duchenne Muscular Dystrophy

Zacharin Margaret , Lee Samantha , Taylor Miller Tashunka , Simm Peter , Munns Craig

Background: DMD is an X-linked recessive disorder, due to mutations of the DMD gene on Xp21, encoding dystrophin, characterized by high cytokines and progressive muscle degeneration, with loss of ambulation, increasing immobility and complicated by late cardio-respiratory failure. Use of high dose corticosteroid aims to prolong mobility, delay/reduce complications and to increase lifespan but adverse effects on bone health include bone loss and increased vertebral and long bon...

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: ...

hrp0084p2-215 | Bone | ESPE2015

Whole-Body Vibration Training Improves Physical Function and Increases Bone and Muscle Mass in Youngsters with Mild Cerebral Palsy

Gusso Silmara , Colle Patricia , Derraik Jose G B , Biggs Janene , Munns Craig , Cutfield Wayne , Hofman Paul

Background: Adolescents with cerebral palsy (CP) have decreased muscle mass resulting in impaired mobility and osteopenia. There is a void in therapeutic interventions aimed at increasing muscle mass, muscle function as well as osteopoenia in this population. Whole body vibration training (WBVT) has the potential to fill this therapeutic void by maintaining/increasing muscle mass and bone mineral accrual during growth.Objective and hypotheses: We aimed t...

hrp0086lbp12 | (1) | ESPE2016

An Analysis of Symptoms and Signs of Adrenal Insufficiency in Children with CAH Admitted to Hospital in Australia

Chrisp Georgina , Maguire Ann , Quartararo Maria , Falhammar Henrik , Hameed Shihab , King Bruce , Munns Craig , Torpy David , Rushworth R. Louise

Background: An adrenal crisis (AC) is a life-threatening complication of congenital adrenal hyperplasia (CAH). Despite modern therapies, children with CAH still present with symptomatic adrenal insufficiency (AI) and AC.Objective and hypotheses: The aim of the study was to determine the spectrum of symptoms and signs of AI in children with diagnosed CAH who were admitted to hospital for an acute illness, as well as to evaluate the use of stress dosing an...

hrp0094p2-58 | Bone, growth plate and mineral metabolism | ESPE2021

Denosumab therapy for giant cell granuloma in a paediatric patient: using quantification of Tc99m-MDP uptake on SPECT imaging to guide treatment.

Wade Laura , Siddle Kathryn , Aderotimi Tobi , Armitage Suzanne , Blair Joanne , Munns Craig , Barnes Nik , Abernethy Laurence , Dharmaraj Poonam ,

Background: Giant cell granulomas (GCG) are uncommon bony lesions that most commonly affect the maxilla and mandible; whilst generally benign they can be disfiguring to the face. Historically, GCGs have been treated with steroids or bisphosphonates to try and avoid surgical resection. Over recent years denosumab, a human monoclonal antibody which acts against the receptor activator of nuclear factor kappa B ligand, has been shown to be effective in treating GC...

hrp0092rfc2.1 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Burosumab Resulted in Better Clinical Outcomes Than Continuation with Conventional Therapy in Both Younger (1-4 Years-Old) and Older (5-12 Years-Old) Children with X-Linked Hypophosphatemia

Högler Wolfgang , Imel Erik A. , Whyte Michael P. , Munns Craig , Portale Anthony A. , Ward Leanne , Nilsson Ola , Simmons Jill H. , Padidela Raja , Namba Noriyuki , Cheong Hae Il , Mao Meng , Skrinar Alison , San Martin Javier , Glorieux Francis

In children with X-linked hypophosphatemia (XLH), excess circulating fibroblast growth factor 23 (FGF23) causes hypophosphatemia with consequent rickets, skeletal deformities, and impairments in growth and mobility. Compared to continuation with conventional therapy (oral phosphate and active vitamin D [Pi/D]), switching to treatment with burosumab, a fully human monoclonal antibody against FGF23, showed significantly greater improvement in phosphate homeostasis, rickets sever...

hrp0089fc10.1 | Late Breaking | ESPE2018

Burosumab Improved Rickets, Phosphate Metabolism, and Clinical Outcomes Compared to Conventional Therapy in Children with X-Linked Hypophosphatemia (XLH) – A Randomized Controlled Phase 3 Study

Nilsson Ola , Whyte Michael P. , Imel Erik A. , Munns Craig , Portale Anthony A. , Ward Leanne , Simmons Jill H. , Padidela Raja , Namba Noriyuki , Cheong Hae Il , Mao Meng , Skrinar Alison , Chen Chao-Yin , Martin Javier San , Glorieux Francis

In children with XLH, high circulating levels of FGF23 cause hypophosphatemia with consequent rickets, skeletal deformities, and growth impairment. Conventional therapy consists of multiple daily doses of oral phosphate and active vitamin D (Pi/D). Burosumab is a fully human monoclonal antibody against FGF23 indicated for the treatment of XLH. In the active-control study CL301 (NCT02915705), 61 children with XLH (1–12 years old) were randomized (1:1) to receive subcutaneo...

hrp0095fc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Patient-reported outcomes from a randomized open-label phase 3 trial comparing burosumab vs conventional therapy in children with X-linked hypophosphatemia: results from the 24-week treatment extension period

Padidela Raja , Whyte Michael P , Glorieux Francis H , Munns Craig F , Ward Leanne M , Nilsson Ola , Portale Anthony A , Simmons Jill H , Namba Noriyuki , Cheong Hae Il , Pitukcheewanont Pisit , Sochett Etienne , Högler Wolfgang , Muroya Koji , Tanaka Hiroyuki , Gottesman Gary S , Biggin Andrew , Perwad Farzana , Williams Angela , Nixon Annabel , Sun Wei , Chen Angel , Skrinar Alison , Imel Erik A

In a randomized open-label phase 3 trial in 62 children (1–12 years) with X-linked hypophosphatemia (XLH) (NCT 02915705), switching from conventional therapy (oral phosphate plus active vitamin D) to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved serum phosphate concentration, rickets, lower-extremity deformities, growth, mobility, and patient-reported outcomes (PROs) at 64 weeks. Children in Europe, USA, Canada, and Australia wh...