Active not recruitingOBSERVATIONAL

Genetic Analysis to Predict the Development of Paget's Disease

This study aims to understand and predict Paget's disease of the bone (PDB) in people who have a close relative with the condition. PDB affects bones, causing pain, changes to bone shape, and sometimes other problems. Researchers are using genetic tests to see if they can predict who is likely to develop PDB. They will also use special bone scans to detect early signs of the disease and compare these findings with genetic test results. Additionally, they will look at blood, saliva, and stool samples to understand other factors that might increase the risk. The hope is to find better ways to identify people at high risk early, so that treatment can be offered sooner if needed.

At a glance

Status

Active not recruiting

Sponsor

University of Edinburgh

Enrolment target

135

Start

01 Jan 2022

Estimated completion

01 Jun 2027

Paget Disease Paget Disease of Bone

What is this study about?

Paget's disease of the bone is a condition that affects your bones. It can make them grow too quickly and become weaker or change shape, which can lead to pain, arthritis, or even hearing problems. We know that if a close family member, like a parent or sibling, has Paget's disease, you might be more likely to develop it too. This is because your genes play a big part.

This study is looking into whether new genetic tests can help predict who will develop Paget's disease. Researchers are inviting people over 45 who have a parent or sibling with the condition, but don't have it themselves. They will check their genes for specific markers linked to Paget's. To see how good these gene tests are at predicting the disease, participants will also have a special bone scan (called a radionuclide bone scan) at the start of the study and again five years later. This scan is very sensitive and can pick up early signs of the disease.

Beyond just genes, the study will also look at blood samples for other markers of Paget's disease. They will even check saliva and stool samples to understand the role of your 'microbiome' – the tiny germs living in and on your body – as this might also affect your risk. The main goal is to find better ways to predict who might get Paget's disease early on. This could mean fewer people needing full bone scans in the future, and getting people the right treatment at the right time to prevent serious problems.

Key takeaways

Study aims to predict Paget's disease in those with family history.
Uses genetic tests and special bone scans over five years.
Also examines blood, saliva, and stool for other risk factors.
No direct treatment, but aims for earlier diagnosis for future patients.
You can withdraw at any time.

Who may be eligible?

This study is looking for two main groups of people: those who might be at higher risk of Paget's disease and a comparison group.

If you have a close family member (like a parent or sibling) with Paget's disease, and you are over 45 but haven't been diagnosed with it yourself, you might be able to join. You need to be happy to give your consent and follow the study's plan. However, you can't join if you've already had a Paget's disease diagnosis or if you have a medical reason that prevents you from having the special bone scan.

The study also needs a 'control' group. These are people over 45 who don't have Paget's disease, don't have a family history of it, and are willing to take part. This group helps the researchers compare findings with those who have a family history of the condition. They often like to recruit spouses, partners, or friends of the main study participants.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Do you have a parent or sibling with Paget's disease?
Are you over 45 years old?
Have you *not* been diagnosed with Paget's disease yourself?
Are you able to have a special bone scan (radionuclide bone scan)?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you'll first have a special bone scan called a radionuclide bone scan. This scan is a very sensitive way to check for early signs of Paget's disease. You'll also provide samples of blood, saliva, and stool for researchers to look at your genes, other disease markers, and your microbiome. After some time, about five years later, you would have the radionuclide bone scan repeated. There are no specific medications given as part of this study, as it's focused on understanding and predicting the disease. The total duration of your active involvement in the study would be about five years due to the two scans being taken at this interval.

Potential risks and benefits

Taking part in this study won't directly improve your health right now, as it's about research for the future. However, you'll be contributing important information that could help healthcare professionals better understand and predict Paget's disease for others. This could lead to earlier diagnosis and treatment for future patients. The main risk involves the radionuclide bone scan, which uses a small amount of radiation, similar to what you'd get from natural sources over a few months. The study team will explain all the details, including any potential side effects. Please remember you are free to withdraw from the study at any time without giving a reason, and it won't affect your medical care.

Locations (1)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

NHS Lothian
Verified postcode
Edinburgh, United Kingdom

Common questions

What is Paget's disease?

Paget's disease is a condition where your bones grow unusually, becoming weaker or changing shape, which can lead to pain and other problems.

Why is this study looking at my genes?

If close family members have Paget's, you might be more likely to get it. This study wants to see how well genetic tests can predict who will develop the disease.

What is a radionuclide bone scan?

It's a special scan that can detect very early changes in your bones that might be related to Paget's disease, even before you have symptoms.

Will I get treatment from this study?

No, this study is for research to predict Paget's disease, not to give treatment. Your own doctor will manage any medical care you need.

What happens if they find something in my tests?

The study team will explain how and if you will be informed of any findings, and what this might mean for discussions with your regular doctor.