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)
|JLA question ID
|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
|Extra information provided by this PSP
|Original uncertainty examples
|What underlying biochemical abnormality can we target?
|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 unique ID
|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