ESPE Yearbook of Paediatric Endocrinology

In Brief: This phase 2 study investigated the effect of the RANKL inhibitor denosumab on fibrous dysplasia lesion activity, as well as the rebound in bone turnover after treatment discontinuation.Commentary: Denosumab is a humanized monoclonal antibody that inhibits RANKL with potent but transient antiosteoclastic effects, and discontinuation of denosumab treatment is associated with a rebound in bone turnover. In this study, eight women received high do...

In Brief: This phase 1 study in healthy adults assessed the safety and feasibility of transcon-CNP, a novel prodrug that releases native C-type natriuretic peptide (CNP). The novel drug was well tolerated and CNP remained in systemic circulation for >7 days following a single dose.Commentary: Achondroplasia is caused by autosomal activating mutation in the fibroblast growth factor receptor 3 gene (FGFR3) resulting in constitutive receptor ac...

In Brief: Autosomal recessive hypophosphatemic rickets type 1 (ARHR1) is caused by inactivating pathogenic variants in the DMP1 gene. Fibroblast growth factor 23 (FGF23) concentration is elevated, which causes hypophosphatemic rickets. This study showed benefits of burosumab (Crysvita), a humanized monoclonal antibody to FGF23, on biochemical and clinical outcomes in two patients with ARHR1.Commentary: ARHRs are rare, heritable renal phosphate-w...