ESPE Abstracts

Background: Nephrogenic diabetes insipidus (NDI) is caused by inability of renal collecting duct cells to respond to arginine vassopresin (AVP)/antidiurethic hormone (ADH).Objective and hypotheses: The majority of patients (about 90%) have type 1, X-linked recessive form, of NDI caused by mutation in gene encoding the vassopresin V2 receptor. Type 2, autosomal NDI, have the rest 10% of patients. This type is caused by the aquaporin-2 water channel (AQP2)...

In children with X-linked hypophosphatemia (XLH), excess circulating fibroblast growth factor 23 (FGF23) causes hypophosphatemia with consequent rickets, skeletal deformities, and impairments in growth and mobility. Compared to continuation with conventional therapy (oral phosphate and active vitamin D [Pi/D]), switching to treatment with burosumab, a fully human monoclonal antibody against FGF23, showed significantly greater improvement in phosphate homeostasis, rickets sever...

In children with XLH, high circulating levels of FGF23 cause hypophosphatemia with consequent rickets, skeletal deformities, and growth impairment. Conventional therapy consists of multiple daily doses of oral phosphate and active vitamin D (Pi/D). Burosumab is a fully human monoclonal antibody against FGF23 indicated for the treatment of XLH. In the active-control study CL301 (NCT02915705), 61 children with XLH (1–12 years old) were randomized (1:1) to receive subcutaneo...

In a randomized open-label phase 3 trial in 62 children (1–12 years) with X-linked hypophosphatemia (XLH) (NCT 02915705), switching from conventional therapy (oral phosphate plus active vitamin D) to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved serum phosphate concentration, rickets, lower-extremity deformities, growth, mobility, and patient-reported outcomes (PROs) at 64 weeks. Children in Europe, USA, Canada, and Australia wh...