ESPE Yearbook of Paediatric Endocrinology

In brief: This multinational, randomised, double-blind, placebo-controlled, Phase 2 study examined the safety and efficacy of vosoritide, a recombinant C-type natriuretic peptide (CNP) analogue, in 75 children with achondroplasia under age 5 years. Mean gain in height Z-score after 52-weeks was 0•25 (95% CI -0•02 to 0•53). The study was sponsored by BioMarin Pharmaceutical.Commentary: Achondroplasia is one of the most common constitutional...

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...