Improvements with burosumab treatment in an early access programme for adults with X-linked hypophosphataemia: A case series of three patients.

Day, Julia; Jayatilleke, Chandrin; Roy, Matthew · Bone Rep · 2024

case_series · Level IV

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Abstract

X-linked hypophosphataemia (XLH) is a life-long phosphate-wasting disorder that causes skeletal deformities, pain, stiffness, and fatigue and impairs quality of life. Burosumab was approved for use in adults in 2020. We describe three adults with persistent XLH symptoms who received burosumab treatment in a real-world setting. Patients report improvements in pain, mobility, physical function, energy, fatigue, and mental wellbeing through patient-reported outcome measures, enriched with further detail from written testimonials.