Arthroplasty in Paget's Disease
Research type
Research Study
Full title
Arthroplasty in Paget's Disease
IRAS ID
248141
Contact name
Stuart Ralston
Contact email
Sponsor organisation
University of Edinburgh
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
Paget’s disease of bone (PDB) is characterised by abnormalities of bone structure affecting one or multiple bones throughout the skeleton. This can cause various complications such as bone deformity, bone pain, deafness, fracture and an increased risk of osteoarthritis. Genetic factors play a key role in PDB but environmental factors also contribute. A puzzling feature of PDB is why some bones are affected whilst others are spared. Another theory is that there may be local genetic abnormalities in bones that are affected which cause the affected bone cells to behave abnormally. This has been shown to occur in another rare bone disease called Mellorheostosis where mutations in two genes (SMAD3 and MAP2K1) have been found in affected tissue. The aim of this study is to determine if mutations are present in affected bone tissue from patients with PDB that are not present in unaffected bone or other tissues or in control individuals who do not have Paget's disease.
REC name
South Central - Hampshire A Research Ethics Committee
REC reference
22/SC/0386
Date of REC Opinion
4 Nov 2022
REC opinion
Further Information Favourable Opinion