ISSN 1662-4009 (online)

ey0021.5-7 | Novel Treatments | ESPEYB21

5.7. Burosumab vs conventional therapy in children with x-linked hypophosphatemia: results of the open-label, phase 3 extension period

Ward Leanne M. , Hogler Wolfgang , Glorieux Francis H. , Portale Anthony A. , Whyte Michael P. , Munns Craig F. , Nilsson Ola , et al.

In brief: This report describes the efficacy and safety of burosumab during the open-label extension period of the original Phase 3 study (weeks 64-88) in 21 children with X-linked hypophosphatemia (XLH) who continued to receive burosumab or crossed over from conventional therapy to burosumab.Commentary: X-linked hypophosphatemia (XLH) is a rare inherited disorder of phosphorus metabolism caused by loss-of-function mutations in the PHEX gene, re...

ey0021.5-2 | Advances in Clinical Practice | ESPEYB21

5.2. Clinical profiles of children with hypophosphatasia prior to treatment with enzyme replacement therapy: an observational analysis from the global HPP registry

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

In brief: This observational analysis, based on data from the Global Hypophosphatasia Registry, reports the clinical profiles, prior to initiation of asfotase alfa enzyme replacement therapy, in a large cohort of children with hypophosphatasia (n=151), by age (<6 months vs 6 months to 18 years) and geographic region (USA/Canada, Europe, and Japan).Commentary: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in th...

ey0021.5-8 | Novel Treatments | ESPEYB21

5.8. Management of RANKL-mediated disorders with denosumab in children and adolescents: a global expert guidance document

Vanderniet Joel A. , Szymczuk Vivian , Hogler Wolfgang , Beck-Nielsen Signe S. , Uday Suma , Merchant Nadia , Crane Janet L. , Ward Leanne M. , Boyce Alison M. , Munns Craig F.

In brief: This article reviews the evidence and provides expert opinion on the safe and appropriate use of denosumab in children and adolescents with RANKL-mediated disorders such as giant cell bone tumours, fibrous dysplasia and juvenile Paget’s disease.Commentary: Receptor activator of nuclear factor κB ligand (RANKL) is expressed by osteogenic cells and induces osteoclast differentiation by binding to RANK on osteoclast precursors. Excessive...