Faculty

Craig Munns

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New Era of Management of X-linked hypophosphatemia

X-linked hypophosphataemic rickets (XLH) is a rare congenital bone condition caused by inactivating mutations in the PHEX gene, which leads to upregulation of FGF23 and hypophosphatemia. Clinical features include rachitic features, limb deformity, abnormal skull shape, craniosynostosis and Chiari malformation (1).

Treatment of XLH has involved supplementation with calcitriol and phosphate. Burosumab, an anti-FGF23 antibody, is a recent treatment for XLH that targets the chronic upregulation of FGF23. A 64-week phase 3 randomised, active-control, open-label trial of Burosumab in children aged 1-12 years was recently published (2). This study showed that Burosumab was associated with a significant improvement in rickets, lower limb bowing, serum ALP, serum phosphate and growth. It remains to be determined for which patients the clinical outcome would be sufficient with conventional therapy and which adults or children would benefit the most from Burosumab (1).

1. Imel EA, Biggin A, Schindeler A, Munns CF. FGF23, Hypophosphatemia, and Emerging Treatments. JBMR Plus, 2019. In press.

2. Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R,
Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA. Burosumab versus
conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet, 2019 Jun 15;393(10189):2416-2427

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