Active Vitamin D Analogues and Oral Phosphate for the Treatment of X-Linked Hypophosphataemia in Paediatric Patients: A Systematic Literature Review and Survey of Expert Opinion on Potential Limitations and Current Needs

We are pleased to be able to share the news that our poster was presented at the ICCBH 2019 conference over the weekend by Prof. Zulf Mughal.

X-Linked Hypophosphataemia (XLH) is a rare, inherited, genetic disease characterised by renal phosphate wasting, bone mineralisation defects, rickets, abnormal tooth development, poor growth and, often, bone pain (Figure 1). Common treatment of children involves supplementation with oral phosphate and active vitamin D analogues (often termed ‘conventional therapy’) to improve the reduced serum phosphate concentrations and vitamin D metabolism impairments characteristic of XLH. Whilst conventional therapy is an empirical therapy, paediatric patients receiving this treatment often experience significant improvements in symptomatology, with improvements in symptoms such as rickets and impaired growth resulting in substantial improvements in quality of life. However, to our knowledge, no comprehensive assessments of the potential limitations of this therapy have yet been conducted.