RecruitingOBSERVATIONAL

Biomarkers in SCOTland CardiomyopatHy Registry (Bio-SCOTCH)

This study, called Bio-SCOTCH, is investigating heart muscle diseases (cardiomyopathies) that can be passed down in families. We know that some people with specific faulty genes develop serious heart problems, while others don't. Currently, finding these problems involves many expensive and time-consuming heart scans. The research aims to discover new and existing 'biomarkers'. These are like natural signals in your body, found in blood, urine, or even on heart scans, that could show if someone is developing heart disease early on. If we find these, it could mean much simpler monitoring for people at risk, like a quick blood test instead of lots of hospital visits and scans. This could help doctors start treatment sooner and improve care.

At a glance

Status

Recruiting

Sponsor

NHS Greater Glasgow and Clyde

Enrolment target

750

Start

26 Jun 2024

Estimated completion

19 Mar 2027

Cardiomyopathies Genetic Predisposition Cardiomyopathy, Primary

What is this study about?

Imagine your heart is a pump. Sometimes, because of changes in your genes, this pump doesn't work as well as it should. This is called cardiomyopathy, and it can sometimes lead to heart failure, irregular heartbeats, or even sudden heart problems. We know that several specific genes can cause this condition, and if someone in your family has one, other family members might also have it.

Right now, if you have one of these faulty genes, doctors have to do regular, detailed heart scans like ECGs, echocardiograms (ultrasounds of the heart), and sometimes MRI scans to check for any signs of the disease. These checks can be a bit of a hassle, expensive, and sometimes stressful. What's tricky is that even if you have the faulty gene, you might never actually get sick, or you might develop symptoms very slowly. We don't currently have an easy way to tell who will get sick and who won't.

This study is trying to find a simpler way to spot these problems early. We're looking for 'biomarkers' — these are like tiny clues in your body, such as certain substances in your blood or urine, or even specific patterns on a heart scan. By studying these markers in people with specific faulty genes, we hope to find those that can act as an early warning system. If we find them, it could mean that instead of many complex scans, a simple blood or urine test might tell doctors if someone is developing heart problems. This would allow for quicker monitoring and potentially earlier treatment, helping people stay healthier longer.

Key takeaways

This study aims to discover early warning signs (biomarkers) for heart muscle disease.
It focuses on people with specific faulty genes that can cause heart conditions.
The goal is to find easier monitoring methods than current extensive heart scans.
Participation involves various heart assessments and sample collections.
No new medications are being tested in this research.
Findings could lead to earlier diagnosis and potentially better care for future patients.

Who may be eligible?

This study is looking for people aged 10 years and older, both male and female, who might be at risk of cardiomyopathy.

You can take part if you have already been diagnosed with a cardiomyopathy gene fault (specifically TTN, LMNA, MYBPC3, DSP, or FLNC), or if you are currently having genetic testing to see if you have one of these gene faults. If your genetic test comes back negative, you might still be able to join as part of a 'control' group, which helps compare findings.

However, you won't be able to join if you can't give your clear permission to take part, or if you can't easily get to the study centre for appointments. You also can't participate if you have another serious illness that doctors expect would shorten your life to less than five years, or if you're currently in another drug study that's 'blinded' (where you don't know if you're getting the study drug or a dummy drug).

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.

Are you 10 years old or older?
Do you have a known faulty gene linked to cardiomyopathy (TTN, LMNA, MYBPC3, DSP, or FLNC), or are you currently being tested for one?
Can you travel to the study centre for appointments?
Are you able to provide your consent to take part?

Answer every question to see your result.

What does participation involve?

Taking part in this study would involve several visits to the study centre. During these visits, you would have some assessments done. These might include giving blood and urine samples, having ECGs (which check your heart's electrical activity), echocardiograms (a heart ultrasound), and possibly MRI scans to get detailed pictures of your heart. The study isn't testing any new medications; it's focused on finding these 'biomarkers'. The exact number and frequency of visits, and the total duration you'd be involved, would be explained in full detail by the study team, but it would involve ongoing monitoring over time.

Potential risks and benefits

A potential benefit of taking part is contributing to important research that could lead to much simpler ways of monitoring heart health for people at risk in the future. While there's no direct medical treatment offered as part of this study, the detailed heart assessments you receive might give you up-to-date information about your heart health. As with any medical study, there are some potential risks, mainly related to the assessments, such as minor discomfort from blood tests or the time commitment for scans. However, all procedures are standard medical practices. Remember, you have the right to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (1)

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

Queen Elizabeth University Hospital
Verified postcode
Glasgow, United Kingdom· Recruiting

Common questions

What is a 'biomarker'?

A biomarker is like a natural clue in your body, found in blood, urine, or on scans, that can tell doctors something about your health or if a disease is developing.

Why is this study important?

It could help find simpler ways to check for heart problems in people with faulty genes, hopefully leading to earlier diagnosis and treatment without lots of complicated scans.

Will I get any medication in this study?

No, this study is about finding new ways to *diagnose* heart conditions early, not about testing new medicines. You'll continue with your usual medical care.

What if I have the faulty gene but don't feel sick?

That's exactly who we want to include! This study aims to find markers that show disease *before* you feel unwell.

How long will I be in the study?

The study involves looking at changes over time, so participation would likely involve follow-up visits. The study team will explain the full duration.

How to find out more

Caroline J Coats, MBBS, PhD

caroline.coats@glasgow.ac.uk 0141 451 6121 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.