Genetic testing to predict Paget's disease development
Genetic Analysis to Predict the Development of Paget's Disease
University of Edinburgh · NCT05309954
This study is testing if genetic testing can help people aged 45 and older, who have a close family member with Paget's disease, understand their risk of developing the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 950 (estimated) |
| Ages | 45 Years and up |
| Sex | All |
| Sponsor | University of Edinburgh (other) |
| Locations | 1 site (Edinburgh) |
| Trial ID | NCT05309954 on ClinicalTrials.gov |
What this trial studies
This study aims to investigate the genetic factors associated with Paget's disease of bone (PDB) by performing genetic testing on individuals aged 45 and older who have a first-degree relative with the disease. Participants will undergo a radionuclide bone scan at the start of the study and again after five years to assess the effectiveness of genetic profiling in predicting the onset of PDB. The research focuses on understanding the hereditary risks and the role of specific genetic mutations, particularly in the SQSTM1 gene, in the development of PDB.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 45 and older with a family history of Paget's disease in a parent or sibling.
Not a fit: Patients who are already diagnosed with Paget's disease or those without a family history of the disease may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to early identification of individuals at high risk for Paget's disease, allowing for timely interventions and management.
How similar studies have performed: While genetic profiling in relation to Paget's disease is a relatively novel approach, previous studies have shown promise in understanding genetic determinants of other hereditary conditions.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Edinburgh
- NHS Lothian — Edinburgh, United Kingdom (RECRUITING)
Study contacts
- Principal investigator: Stuart Ralston — University of Edinburgh
- Study coordinator: Jonathan Phillips
- Email: GAPDPD@exseed.ed.ac.uk
- Phone: 07773309603
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Paget Disease, Paget Disease of Bone