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The National Institute for Health and Care Excellence (NICE) recently recommended making burosumab available for all adults with X-linked hypophosphataemia (XLH), a rare inherited disorder characterised by low levels of phosphate in the blood leading to bone and tooth problems.
Clinical trial evidence shows that burosumab effectively increases the level of phosphate in the blood resulting in less pain and fatigue, and physical improvements, but this was restricted to adults aged from 18 to 65 years with at least 4 out of 10 pain. Critically, evidence for teenagers between stopping growth and becoming 18 years of age is lacking.
With funding from Kyowa Kirin International, researchers at NDORMS will look at the longer term use of burosumab and whether it improves the lives of all adults living with the condition as well as measure the impact of XLH on the lives of caregivers.
Using data from the ongoing Rare and Undiagnosed Diseases Study (RUDY) registry, the research will assess both clinical outcomes and patient experiences over time. The first part of the study will focus on the characteristics of patients and how burosumab affects their physical, mental, and social well-being. The second part, led by Associate Professor Rafael Pinedo-Villanueva will look specifically at the quality of life and productivity of family members who are caregivers for adults with XLH, shedding light on the broader impact of the treatment.
Kassim Javaid, Professor of Osteoporosis and Adult Rare Bone Diseases at NDORMS and the study’s Principal Investigator said: ‘The research intends to generate data on the broader impact of burosumab on patients and caregivers and will include economic aspects that will support healthcare decision-making both here in the NHS as well as globally to improve the overall management of this rare and debilitating condition.’
