Rare Musculoskeletal Diseases In Adulthood Priority Setting Partnership

The aim of the Rare Musculoskeletal Diseases in Adulthood Priority Setting Partnership (PSP) was to identify the unanswered questions relating to the treatment and long-term management of rare musculoskeletal diseases in adulthood from patient and clinical perspectives and then prioritise those that patients and clinicians agree are the most important.

This PSP decided that treatment and long-term management should include psychosocial management, as well as diagnosis. It was agreed to include diagnosis with the understanding that this can be challenging and the PSP has limited resources, and the steering group would therefore make the decision about how to take such questions forward depending on the responses received.

The PSP steering group agreed to focus on 3 ultra-rare conditions in this area:

  • X-Linked hypophosphatemia (XLH)
  • Osteogenesis Imperfecta (OI)
  • Fibrous Dysplasia (FD)

This PSP was produced by patient organisations The Brittle Bone Society, Fibrous Dysplasia Support Society, XLH UK and The XLH Network, in collaboration with Genetic Alliance UK, James Lind Alliance and NIHR Oxford Biomedical Research Centre.