RecruitingOBSERVATIONAL

Molecular Imaging in Fabry Disease of the Heart

This study is about finding better ways to detect heart issues earlier in people who have Fabry disease. Fabry disease is a genetic condition that can unfortunately lead to heart problems over time if not managed well. Currently, it can be tricky to spot these problems at their very early stages. Researchers are using a new type of scan called a 68Ga-DOTATATE PET/MRI. This special scan combines two imaging techniques to create detailed pictures of the heart. They want to see if this scan can help them find signs of inflammation in the heart muscle. Finding these early signs could give doctors more information to make important decisions about treatment, potentially helping to prevent or slow down serious heart complications in people with Fabry disease.

At a glance

Status

Recruiting

Sponsor

University of Cambridge

Enrolment target

Start

02 Jan 2024

Estimated completion

02 Jan 2026

Fabry Disease, Cardiac Variant

What is this study about?

Fabry disease is a genetic condition where the body can't break down a certain fatty substance properly. This substance then builds up in various parts of the body, including the heart. Over time, this build-up can lead to serious heart problems like an abnormal heart rhythm, thickening of the heart walls, and scarring. These issues can make the heart less efficient at pumping blood.

Catching these heart changes early is really important, as it might allow doctors to start treatments that could prevent or slow down the damage. However, current imaging tests, like standard MRI scans, might not be sensitive enough to pick up the very first signs of trouble, such as slight inflammation in the heart muscle. This study is trying to bridge that gap.

The researchers are using a special type of scan called a 68Ga-DOTATATE PET/MRI. This scan is designed to look for inflammation. By combining PET (positron emission tomography) and MRI (magnetic resonance imaging) into one test, they hope to get a much clearer picture of what's happening in the heart. If this special scan can reliably show early inflammation, it could give doctors a valuable tool to better understand and manage Fabry heart disease, helping patients live healthier lives.

Key takeaways

This study is looking for better ways to spot heart problems early in Fabry disease.
It uses a new combined PET/MRI scan to look for inflammation in the heart.
Finding early signs could help doctors make better treatment decisions.
You won't receive new medications as part of this study.
Participation involves undergoing the special imaging scan.

Who may be eligible?

To join this study, you need to be an adult (18 years or older) and have Fabry disease, which has been confirmed by genetic testing or special enzyme tests. You also need to have had a heart MRI scan within the last three years that showed some signs of Fabry-related heart changes, such as thickening of the heart muscle, scarring, or swelling (oedema).

There are some reasons why you might not be able to take part. For example, if you have another condition that could cause heart inflammation, like myocarditis, or if you've had gene therapy before. You also can't participate if you have a medical reason that prevents you from having an MRI scan, or if you have severe kidney disease, or if you're a woman who could become pregnant and isn't using effective contraception.

Other reasons you might not be able to join include if you have an uncontrolled irregular heartbeat (atrial fibrillation) or any other health issue that would make it difficult or unsafe for you to lie flat for the scans or take part in the study.

Quick self-check

Are you 18 years old or older?
Do you have a confirmed diagnosis of Fabry disease?
Have you had a heart MRI in the last 3 years showing some heart changes related to Fabry disease?
Can you lie flat for the scan?
Are you able to have an MRI (no metal implants or severe kidney disease)?
If you're a woman who could get pregnant, are you using effective contraception?

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

What does participation involve?

The study involves undergoing a special 68Ga-DOTATATE PET/MRI scan. This scan combines two types of imaging to get detailed pictures of your heart. You'll need to lie still in a scanner for a period. Before the scan, an injection of a small amount of a special tracer substance will be given, which helps the PET part of the scan work.

The researchers will use the information from this scan to assess inflammation in your heart. You won't be given any new medication as part of this study itself, as it's purely an imaging study. The total duration of your involvement in the study will be limited to the time taken for the scan and any associated preparation or follow-up appointments directly related to the scan procedure.

Potential risks and benefits

Participating in this study might help doctors learn more about how to detect heart problems in Fabry disease earlier, which could eventually lead to better care for people with the condition. However, there are no direct health benefits to you personally from taking part in this imaging study. Potential risks include those usually associated with an MRI scan, such as feeling confined in the scanner, and risks from the injection of the tracer substance, which are generally very low but can include an allergic reaction. You are free to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (1)

Cambridge University Hospital NHS Foundation Trust
Cambridge, United Kingdom· Recruiting

Common questions

What is Fabry disease?

Fabry disease is a genetic condition where your body can't properly break down a certain fatty substance, which then builds up in organs like your heart.

Why is this scan important?

This special scan aims to find early signs of heart inflammation in Fabry disease, which current methods might miss, helping doctors better manage the condition.

Will I get any medicine in this study?

No, this study is about having a special scan (PET/MRI) to gather information, not about taking new medications.

What does PET/MRI mean?

It's a special type of scan that combines two powerful imaging techniques (PET and MRI) to create very detailed pictures of your heart.

Is the scan safe?

The scan involves standard MRI procedures and a small, safe injection. Your medical team will discuss any potential risks with you.

How to find out more

Jason M Tarkin, PhD MBBS

jt545@cam.ac.uk +44(0)1223331504 Official trial record

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