Genetic Analysis to Predict the Development of Paget's Disease
Research type
Research Study
Full title
Genetic Analysis to Predict the Development of Paget's Disease (GAPDPD)
IRAS ID
259285
Contact name
Stuart Ralston
Contact email
Sponsor organisation
University of Edinburgh
Duration of Study in the UK
6 years, 11 months, 31 days
Research summary
Paget's disease of the bone (PDB) is a skeletal disorder with a strong genetic component which can be associated with various complications such as pain, bone deformity, arthritis and deafness. Recent advances in understanding the genetic determinants of PDB offer the prospect of developing a genetic profiling test which can be offered to people with a parent or sibling with PDB to determine how likely they are to develop the disease themselves.
The aim of the study is to perform genetic testing for variants associated with PDB in people aged 45 and above who have a parent or sibling (first degree relative) with the disease. We will assess how well genetic profiling performs in predicting PDB by performing an imaging technique called a radionuclide bone scan which is a very sensitive way of detecting early PDB. This scan will be performed on entry to the study and again after five years. The reason for performing two scans five years apart because PDB becomes more common with age and so we this will allow us to give an accurate indication of how good the genetic profiling test is in people at different ages. In addition to genetic profiling we will analyse blood samples for biochemical markers of PDB and also test saliva and stool samples for the microbiome profile since its thought that this may influence risk of the disease as well.
In the longer term we hope the study will allow us to develop a blood test to stratify for risk of PDB and use bone scans only in people who we think are at highest risk of developing the disease. This will allow people with PDB to be picked up early allowing treatment to be given in a timely manner.REC name
East of Scotland Research Ethics Service REC 1
REC reference
19/ES/0141
Date of REC Opinion
30 Jan 2020
REC opinion
Further Information Favourable Opinion