Active not recruitingNAINTERVENTIONAL

Arrhythmia Burden, Risk of Sudden Cardiac Death and Stroke in Patients With Fabry Disease

Doctors are studying people with Fabry disease to learn more about irregular heartbeats. Fabry disease is a genetic condition where fatty substances build up in the body, including the heart. This can lead to heart problems like abnormal rhythms. We want to see if using a small device, called an implantable loop recorder (ILR), which is placed just under the skin, can help us find these irregular heartbeats more often than usual tests. Finding these problems earlier could mean people get the right treatment sooner, potentially preventing serious issues like strokes or sudden cardiac arrest. This research aims to improve care and reduce health risks for people with Fabry disease.

At a glance

Status

Active not recruiting

Phase

Sponsor

University Hospital Birmingham NHS Foundation Trust

Enrolment target

169

Start

18 Sep 2019

Estimated completion

01 Jul 2027

Fabry Disease

What is this study about?

Fabry disease is a condition inherited through your genes, which means it's passed down in families. It causes a type of fat to build up in different parts of your body, including your heart. This buildup can lead to problems like irregular heartbeats, sometimes called arrhythmias, where your heart beats too fast, too slow, or unevenly. In the past, kidney problems were the main concern for people with Fabry disease, but with better treatments, heart issues have become a bigger focus.

Even though many people with Fabry disease feel their heart fluttering or have blackouts, it's often hard to catch these irregular heartbeats with standard check-ups. Current tests, like heart tracings (ECGs) or heart scans (echocardiograms), don't always pick up these problems, especially if they only happen occasionally. This study wants to find out if a small, long-term heart monitor, called an implantable loop recorder (ILR), can give us a clearer picture of what's happening with your heart over time.

An ILR is a tiny device, smaller than a USB stick, that doctors can place just under the skin in your chest. It continuously records your heart's electrical activity for a long time – sometimes for up to three years. By doing this, it can catch irregular heartbeats that might be missed during a quick check-up. The hope is that by spotting these problems earlier, doctors can make sure you get the best treatment, such as medication, a pacemaker to help a slow heart, or a defibrillator to stop a very fast heart. Ultimately, this could lead to better health outcomes and reduce serious risks like sudden cardiac arrest or stroke for people living with Fabry disease.

Key takeaways

This study focuses on irregular heartbeats in people with Fabry disease.
It uses a tiny, under-the-skin heart monitor (ILR) to detect these issues.
Earlier detection could lead to better treatments and prevent serious health problems.
Participation lasts for three years and involves standard care, plus an ILR for some.
The goal is to improve care and reduce risks like stroke or sudden cardiac death for Fabry patients.

Who may be eligible?

To join this study, you need to have a confirmed diagnosis of Fabry disease, either by genetic testing or another specific test. You must also be 18 years old or older. Importantly, you need to show some signs that your heart is being affected by Fabry disease. This could be an unusual result on a heart tracing (ECG), specific findings on an advanced heart scan (called a cardiac MRI), or a thicker heart muscle seen on an ultrasound of your heart (echocardiogram).

There are also some reasons why you might not be able to join. For example, if you already have a heart device like a pacemaker, defibrillator, or another implantable loop recorder, you wouldn't be eligible. Also, if you have other serious heart conditions that aren't related to Fabry disease, such as certain types of blocked arteries or other known genetic heart conditions, you might not be able to take part.

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 I have a confirmed diagnosis of Fabry disease?
Am I 18 years old or older?
Has my doctor told me my heart is affected by Fabry disease (e.g., from an ECG or scan)?
Do I currently have a pacemaker, defibrillator, or another loop recorder?
Do I have other serious heart conditions not caused by Fabry disease?

Answer every question to see your result.

What does participation involve?

If you join this study, it will last for three years. You will be randomly assigned to one of two groups. One group will receive standard care, which means your usual clinic visits and heart checks. The other group will also receive standard care, but additionally, you will have a small device called an implantable loop recorder (ILR) placed under your skin at the start of the study. This device will continuously monitor your heart for the entire three years. At the end of the study, the ILR will be removed. You will have regular follow-up appointments during this time to check on your health and the device.

Potential risks and benefits

Taking part in this study could offer some potential benefits, as monitoring your heart more closely with an implantable loop recorder might help doctors detect irregular heartbeats earlier, leading to more timely and effective treatments. This could potentially reduce your risk of serious heart problems. However, there are also potential risks involved, mainly related to the procedure to implant and remove the ILR, such as minor pain, bruising, or a small risk of infection. You have the right to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (7)

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

University of Sydney
Verified postcode
Sydney, Australia
University Hospitals Birmingham NHS Foundation Trust
Verified postcode
Birmingham, United Kingdom
Cambridge University Hospitals NHS Foundation Trust
Verified postcode
Cambridge, United Kingdom
Cardiff and Vale University Health Board
Verified postcode
Cardiff, United Kingdom
Royal Free NHS Foundation Trust
Verified postcode
London, United Kingdom
Salford Royal NHS Foundation Trust
Verified postcode
Manchester, United Kingdom
Sheffield Teaching Hospitals NHS Foundation Trust
Verified postcode
Sheffield, United Kingdom

Common questions

What is an implantable loop recorder (ILR)?

It's a tiny device, about the size of a USB stick, that doctors place just under the skin in your chest. It constantly records your heart's electrical activity to catch any irregular heartbeats.

Why is this study important for people with Fabry disease?

Fabry disease can cause heart problems, including irregular heartbeats. This study aims to find these problems earlier so doctors can offer better, more tailored treatments, which could improve health and reduce serious risks.

Will I know if I have the ILR device?

Yes, you will know if you are in the group that has the ILR device implanted. The device is placed in a small procedure and continuously monitors your heart over three years.

What kind of heart problems are they looking for?

They're looking for different types of irregular heartbeats, like when your heart beats too fast, too slow, or skips beats. These are often called arrhythmias.

What if an irregular heartbeat is found during the study?

If the ILR detects an important irregular heartbeat, your doctors will be informed and can discuss treatment options with you, such as medication, a pacemaker, or other therapies.