Genetic Analysis to Predict the Development of Paget's Disease

Launched by UNIVERSITY OF EDINBURGH · Mar 24, 2022

Keywords

ClinConnect Summary

This clinical trial is studying how genetic testing can help predict whether people are likely to develop Paget's disease of the bone (PDB). PDB is a condition that affects the bones and can lead to pain, deformities, and other health issues. The researchers are looking for participants aged 45 and older who have a parent or sibling with PDB but who have not been diagnosed with the disease themselves. If you qualify, you will undergo a genetic test and a special scan to check for early signs of PDB. Participants will have the scan done when they join the study and again in five years to see how well the genetic test predicts the disease.

The goal of this research is to eventually create a simple blood test that can identify people at risk for PDB, allowing doctors to monitor and treat them early if necessary. This could help improve outcomes for those at risk of developing the disease. If you have a family history of PDB and meet the eligibility criteria, you might consider joining this important study.

Gender

ALL

Eligibility criteria

• • INCLUSION CRITERIA CASES
• • Family history of PDB affecting first degree relative such as a parent or sibling.
• • Not already diagnosed with PDB
• • Participant willing and able to consent and comply with the study protocol.
• • Age \> 45 at the time of enrolment.
• • EXCLUSION CRITERIA CASES
• • Unable or unwilling to provide informed consent
• • Contraindication to radionuclide bone scan
• • Already diagnosed with PDB
• • INCLUSION CRITERIA CONTROLS
• • Spouse, partner or friend of case
• • Not diagnosed with PDB
• • No family history of PDB
• • Participant willing and able to consent and comply with the study protocol.
• • Age \> 45 at the time of enrolment
• • EXCLUSION CRITERIA CONTROLS
• • • Unable or unwilling to give informed consent