Priority 23 from the Rare Musculoskeletal Diseases in Adulthood PSP

UNCERTAINTY: If we have a better understanding of what causes rare metabolic bone disorders, will that help find new treatments? (JLA PSP Priority 23)
Overall ranking 23
JLA question ID 0076/23
Explanatory note Not available for this PSP

The vast majority of people with XLH have mutations in the PHEX gene (Capelli S et al, Bone 2015; 79: 143-149), leading to elevated FGF23 concentrations and hypophosphataemia (Imel EA et al, J Bone Miner Res 2007; 22: 520-526). This provides the ratiionale for treatment for XLH with the anti-FGF23 monoclonal antibody. 

Health Research Classification System category Musculoskeletal
Extra information provided by this PSP
Original uncertainty examples What underlying biochemical abnormality can we target?
Submitted by Individual survey submissions categorised by Health or Social Care Professionals, Organisations representing people with rare musculoskeletal diseases, people with rare musculoskeletal diseases, relatives/carers/friends, Other.  For full details of the type of submitter for each individual question, please see the spreadsheet of data held on the JLA website.
PSP information
PSP unique ID 0076
PSP name Rare Musculoskeletal Diseases in Adulthood
Total number of uncertainties identified by this PSP. 39  (To see a full list of all uncertainties identified, please see the detailed spreadsheet held on the JLA website)
Date of priority setting workshop 18 June 2018