Priority 1 from the Rare Musculoskeletal Diseases in Adulthood PSP

UNCERTAINTY: What is considered a good outcome of treatment in rare bone metabolic disorders? How can this be measured in studies of new treatments? (JLA PSP Priority 1)
Overall ranking 1
JLA question ID 0076/1
Explanatory note Not available for this PSP
Evidence

Determinants of impaired quality of life in patients with fibrous dysplasia.Majoor BCJ, Andela CD, Bruggemann J, van de Sande MAJ, Kaptein AA, Hamdy NAT, Dijkstra PDS, Appelman-Dijkstra NM.Orphanet J Rare Dis. 2017 Apr 27;12(1):80.

Physical function is impaired but quality of life preserved in patients with fibrous dysplasia of bone.Kelly MH, Brillante B, Kushner H, Gehron Robey P, Collins MT. Bone. 2005 Sep;37(3):388-94 

Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia. Forestier-Zhang L, Watts L, Turner A, Teare H, Kaye J, Barrett J, Cooper C, Eastell R, Wordsworth P, Javaid MK, Pinedo-Villanueva R

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235275/ 

http://www.thebonejournal.com/article/S8756-3282(08)00897-1/fulltext  

https://www.ncbi.nlm.nih.gov/pubmed/12794240
Health Research Classification System category Musculoskeletal
Extra information provided by this PSP
Original uncertainty examples For FD:Correlation between markers and QOL? ~ In each of these areas there are is little by way of high quality outcome data as to clinically relevant end points. Where data is available it tends to be predicated on laboratory or imaging data rather than clinically relevant data ~ X: anti-FGF23 treatments in XLH-how will outcomes in trials be measured meaningfully?
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