ISSN 1662-4009 (Online)

ESPE Yearbook of Paediatric Endocrinology (2019) 16 5.0 | DOI: 10.1530/ey.16.5

Bone, Growth Plate and Mineral Metabolism

Adalbert Raimanna, Raja Padidelab, Outi Mäkitiec,d & Ola Nilssone,f


aDepartment of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria bDepartment of Pediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester University NHS Foundation Trust, Manchester, UK cChildren’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland dDepartment of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden eSchool of Medical Sciences, Örebro University and University Hospital, Örebro, Sweden fPediatric Endocrinology Unit and Center for Molecular Medicine, Karolinska Institutet and University Hospital, Stockholm, Sweden


Preface: It has been an exciting year for life science in the skeletal research field with several seminal findings ranging from basic science and genetics to novel successful treatments. The powerful technology of cell-tracing is developing and is bringing new understanding to the identity and behaviour of skeletal stem cells. Two reports in Nature have identified the perichondrial stem cell pool that contribute bone cells to the periosteum as well as the behaviour of the growth plate stem cells in the resting zone.

For a number of years, the development of an FGF23 antibody (Burosumab) that binds and neutralises the excess FGF23 in XLH and the development of a bone-targeted alkaline phosphatase replacement therapy (Asfotase Alfa) for hypophosphatasia have been in focus. We now highlight: the first phase 3 study of FGF23 antibody treatment in children with XLH, demonstrating superiority over conventional treatment; outcomes of a single-arm 7-year phase 2 extension trial of Asfotase alfa for infants and children with hypophosphatasia; and additional preclinical data of ENPP1 enzyme replacement therapy, an emerging therapy for generalized arterial calcification of infancy. In addition to these areas of progress, the chapter reports several exciting findings including new genes in rare skeletal disorders, cartilage-targeted IGF1 therapy, Humanin as a potential treatment to prevent glucocorticoid-induced bone growth impairment and more.

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