>> Link to view paper online <<

Delighted to be sharing a new publication that XLH UK and XLH Network was involved in. A lot of you here were instrumental in participating in the study and I’d like to thank you all for your input !


The study identified the top 10 research priorities most relevant to adult patients with rare musculoskeletal disease, their carers and healthcare professionals. It is the first to do so for any metabolic bone disease and one of the few addressing rare disease, where little high-quality research exists, and funding is especially limited.The results here will serve as guidelines for future research work on XLH, maximising patient benefit and reducing funding waste on projects that are less urgent!!


This James Lind Alliance priority setting partnership is the first to investigate rare bone diseases. The priorities identified here were developed jointly by patients, carers and healthcare professionals. We encourage researchers, funding bodies and other stakeholders to use these priorities in guiding future research for those affected by rare musculoskeletal disorders.

The collaborative effort was made possible with funding from the NIHR, led by The James Lind Alliance, with our rare bone alliance partners The Brittle Bone Society, FDSSUK and our clinical experts throughout the country.