ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: N Engl J Med 2018;378:1987-1998FGF-23 is the primary regulator of phosphate homeostasis and acts by inhibiting phosphate reabsorption in the kidney (1). Loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog X-linked (PHEX) results in excess circulating FGF-23, which impairs renal phosphate reabsorption causing hypophosphatemia...

Abstract: Lancet. 2019 May 16.In brief: In a randomised, active-controlled, open-label, phase 3 trial, burosumab (an anti-FGF23 antibody) demonstrated significantly greater clinical improvements in rickets severity, growth, and biochemistries among children with X-linked hypophosphataemia compared with continuation of conventional therapy with oral phosphate and active vitamin D ...

Brief summary: This open-label extension trial enrolled all subjects completing the two previous phase 3 Lonapegsomatropin trials, heiGHt and fliGHt. The results confirm the efficacy of this LAGH formulation in improving height SDS, without major adverse events.Lonapegsomatropin is a long-acting GH consisting of 3 components: unmodified human GH (hGH), an inert glycol carrier, and a TransCon linker that transiently binds the other 2 components. The glyco...

To read the full abstract: Nature. 2018 Jul;559(7714):405–409This article decries a CRISPR-Cas9 genome-targeting system that does not require viral vectors, allowing rapid and efficient insertion of large DNA sequences at specific sites in the genomes of primary human T cells, while preserving cell viability and function.The common approach to genetically...