Endocrine Abstracts

Background: X-Linked Hypophosphataemia (XLH) is a rare, progressive, hereditary phosphate wasting disorder characterised by a pathological increase in fibroblast growth factor 23 concentration/activity. Despite XLH being increasingly recognised as a chronic progressive disease, there are few data documenting its natural history or impact of treatment. The International XLH Registry will collect data to characterise burden of disease, disease progression and long-term outcomes....

Background: X-linked hypophosphataemia (XLH) is a genetic condition that causes significant skeletal deformities and is associated with lifelong disability and pain. In October 2018, the NHS in England recommended burosumab, an anti-FGF23 antibody, for treating XLH with radiographic evidence of bone disease in children aged 1 year and over, and in young people with growing bones. The clinical and cost effectiveness of burosumab for treating adults with XLH is ...