RecruitingOBSERVATIONAL

Mayo AVC Registry and Biobank

The Mayo AVC Registry and Biobank is a study looking into a heart condition called Arrhythmogenic Ventricular Cardiomyopathy (AVC). This condition, often genetic, can make the heart's pumping chambers weaker and cause dangerous irregular heartbeats, sometimes leading to sudden cardiac arrest. It can be hard to diagnose, especially in family members before symptoms appear. This study, a partnership between hospitals in the US and UK, aims to find new genes linked to AVC and discover ways to predict when the disease might start or get worse. By collecting health information and samples from patients and their families, researchers hope to improve diagnosis and treatment, ultimately helping to prevent sudden cardiac arrest.

At a glance

Status

Recruiting

Sponsor

Mayo Clinic

Enrolment target

1,000

Start

09 Feb 2018

Estimated completion

01 Mar 2027

Arrhythmogenic Right Ventricular Cardiomyopathy Cardiomyopathies Heart Diseases Cardiovascular Diseases Sudden Cardiac Arrest Sudden Cardiac Death Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic Ventricular Cardiomyopathy Familial Dilated Cardiomyopathy Cardiovascular Abnormalities Sarcoidosis Cardiac Arrhythmia Cardiac Sarcoidosis Myocarditis Inflammatory Cardiomyopathy Ventricular Tachycardia Right Ventricular Outflow Tract Ventricular Tachycardia

What is this study about?

This study is all about a serious heart condition called Arrhythmogenic Ventricular Cardiomyopathy, or AVC for short. It's a condition that can be passed down through families and affects how the heart muscle works. Specifically, it can make parts of your heart weaker and prone to dangerous, irregular heartbeats. Sadly, for some people, the first sign of this condition can be a sudden cardiac arrest, which means the heart suddenly stops beating.

Diagnosing AVC can be tricky, especially in family members who don't yet have symptoms. The changes in the heart can be very subtle at first, making it hard to spot before a serious event occurs. This research project brings together experts from the Mayo Clinic in the USA and Papworth Hospital in Cambridge, UK. They want to gather information from people who have AVC, or whose sudden cardiac arrest might have been caused by it, along with their blood relatives, even if those relatives don't have the condition themselves. This will help them understand the disease better.

The main goals of this study are to discover new genes or variations in genes that cause AVC, and to find what scientists call 'biomarkers'. These are indicators that could help predict when the disease might start, how it might progress, and if someone is likely to have dangerous heart rhythm problems. By looking closely at how genes relate to what doctors see in patients' hearts and overall health, they hope to improve how AVC is detected and managed, ultimately helping to protect families from this condition.

Key takeaways

Study focuses on Arrhythmogenic Ventricular Cardiomyopathy (AVC), a genetic heart condition.
Aims to find new genetic causes and better ways to predict AVC.
Collaboration between UK and US hospitals.
Open to patients with AVC and their blood relatives.
Participation involves various heart tests and sample collection (blood, saliva).
Information gathered will help improve future diagnosis and prevention of AVC.

Who may be eligible?

You might be able to take part in this study if you've had a sudden cardiac arrest that wasn't caused by a heart attack and you survived, or if a sudden cardiac death in your family wasn't due to a heart attack. This also includes people who had a sudden cardiac arrest linked to seizures, fainting spells, or drowning, where doctors suspect a heart muscle condition might be involved.

Additionally, if you are a blood relative of someone diagnosed with a primary heart muscle condition like HCM, idiopathic DCM, or AVC, you could also be eligible, even if you don't have the condition yourself.

However, you wouldn't be able to join the study if your sudden cardiac arrest or death was clearly caused by a heart attack or severe blockages in your heart arteries. Also, if you're not willing to give your written permission to take part, you won't be able to participate.

Quick self-check

Have you had a sudden cardiac arrest not caused by a heart attack?
Was there a sudden cardiac death in your family not caused by a heart attack?
Are you a blood relative of someone diagnosed with a primary heart muscle condition?
Do you have a clear cause for heart issues like a recent heart attack or severe artery blockages (this might exclude you)?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

If you decide to take part in this study, the research team will collect various pieces of information about your health. This might include details about any symptoms you have, along with results from heart tests like an ECG (a simple test to check your heart's electrical activity), an echocardiogram (an ultrasound scan of your heart), and an MRI scan (a detailed image of your heart). They may also use a Holter monitor or loop recorder, which are small devices that record your heart rhythm over a period of time.

Some participants might also have biopsies taken (small tissue samples), or undergo exercise stress tests. The study will also involve collecting blood, and samples from inside your cheek (buccal swab) or saliva. The exact number of visits and the total duration of your participation will depend on your specific situation within the study, but the team will explain everything clearly before you commit.

Potential risks and benefits

Taking part in this study may not directly benefit you, but the information collected could greatly help doctors better understand AVC, leading to earlier diagnosis and improved care for other patients in the future. As with any medical tests, there are minor potential risks, for example, from blood draws or biopsies, which will be explained in detail. You are always free to change your mind and withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (2)

Mayo Clinic
Rochester, United States· Recruiting
Royal Papworth Hospital NHS Foundation Trust
Papworth Everard, United Kingdom· Recruiting

Common questions

What is AVC?

AVC stands for Arrhythmogenic Ventricular Cardiomyopathy. It's a type of heart condition that can weaken parts of the heart muscle and cause irregular heartbeats, sometimes leading to serious problems like sudden cardiac arrest.

Why is this study important?

This study aims to discover new genetic causes of AVC and find ways to predict who might develop the condition or experience serious complications. This could help doctors diagnose it earlier and prevent sudden cardiac arrest in affected families.

Do I have to have AVC to join?

Not necessarily. While they are seeking people with AVC or a history of sudden cardiac arrest possibly linked to AVC, blood relatives of affected individuals are also invited to participate, even if they don't have the condition themselves.

What kind of tests will I have?

You might have heart tests like ECGs, echocardiograms, and MRI scans. They may also collect blood, cheek swabs, and saliva. Some participants might have biopsies or exercise tests.

Will my privacy be protected?

Yes, all your personal and medical information collected for the study will be kept confidential and handled according to strict privacy guidelines.

How to find out more

Nicholas Wozniak

wozniak.nicholas@mayo.edu +1 507 2558794 Official trial record

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