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 |
| Evidence |
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 |