RecruitingOBSERVATIONAL

Evaluation of HEArt invoLvement in Patients With FABRY Disease

This study is investigating how Fabry disease affects the heart. Fabry disease is a rare genetic condition. The researchers are studying people who have Fabry disease to better understand what might lead to serious heart issues, such as irregular heartbeats or advanced heart failure. They are also looking into factors that might increase the risk of sudden cardiac death. By following a large group of patients over many years, the study aims to identify warning signs and help doctors predict who might be at higher risk. This information is important for improving the care and long-term health of people living with Fabry disease, as heart problems are a major concern for them.

At a glance

Status

Recruiting

Sponsor

Wuerzburg University Hospital

Enrolment target

650

Start

01 Jan 2001

Estimated completion

01 Mar 2032

Rare Diseases Fabry Disease Fabry Disease, Cardiac Variant Hypertrophic Cardiomyopathy

What is this study about?

This study is called 'Evaluation of Heart Involvement in Patients With Fabry Disease'. It's all about understanding how Fabry disease, a rare inherited condition, can affect your heart. Doctors already know that heart problems are common in people with Fabry disease and can sadly lead to a shorter life. The main goal of this research is to learn more about what causes serious heart issues in these patients.

The researchers want to find out what might lead to heart conditions like irregular heartbeats (arrhythmias), sudden heart failure, or heart failure that becomes very severe and might require a heart transplant. By studying a group of patients over a long period, they hope to identify early signs or factors that could help predict who is at a higher risk of developing these problems. This knowledge is crucial for doctors to provide better care and treatment to people with Fabry disease.

This study has been going on since 2001 and includes many patients. This long-term approach and the number of people involved mean the researchers can gather a lot of valuable information. The findings from this study could help improve how doctors manage Fabry disease, potentially leading to better health outcomes and a longer, healthier life for those affected.

Key takeaways

Study focuses on heart problems in Fabry disease.
Aims to understand causes of serious heart issues.
Observational study, no new medications.
Uses existing medical records from your regular care.
Participation helps future patients with Fabry disease.
You must be 18+ and have genetically confirmed Fabry disease.

Who may be eligible?

To be part of this study, you need to have Fabry disease that has been officially confirmed by a genetic test. You also need to be 18 years old or older. Finally, you would need to give your permission (informed consent) to take part.

If you haven't given your permission, or if you decide to withdraw your permission at any point, then you wouldn't be able to join or continue in the study.

This study is open to both men and women who meet these criteria.

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 Fabry disease confirmed by a genetic test?
Are you 18 years old or older?
Are you able to provide your written permission to participate?
Are you currently receiving treatment at the Fabry Center Wuerzburg (FAZiT)?

Answer every question to see your result.

What does participation involve?

This study is a bit different because it's an 'observational' study. This means you wouldn't be given any new or experimental treatments. Instead, the researchers would collect information from your regular care at the Fabry Center Wuerzburg (FAZiT). They started observing patients in 2001, so they're looking at how the disease progresses naturally over time in people who are already receiving treatment.

Taking part would mainly involve allowing your existing medical records and test results from your standard Fabry disease care to be used for research purposes. You would continue receiving your usual treatment and follow-up appointments as recommended by your doctor. The study doesn't involve extra visits, tests, or medication beyond what you would normally have for your Fabry disease management. The researchers will simply be using the information gathered during these routine appointments over a long period to understand more about heart involvement.

Potential risks and benefits

Since this is an observational study that uses information from your existing medical care, there are no additional risks from new medications or procedures. Your medical information would be kept private and handled carefully. The main benefit is that by participating, you help researchers learn more about how Fabry disease affects the heart, which could lead to better diagnoses and treatments for everyone with the condition in the future. You have the right to withdraw your consent and stop participating at any time, without it affecting your medical care.

Locations (1)

Wuerzburg University Hospital
Verified postcode
Würzburg, Germany· Recruiting

Common questions

What is Fabry disease?

Fabry disease is a rare inherited condition where your body can't break down certain fatty substances, which then build up and can damage organs, especially the heart and kidneys.

What does 'heart involvement' mean?

This refers to any way Fabry disease affects your heart, such as causing it to become thicker than normal or leading to irregular heartbeats.

Will I receive new treatment in this study?

No, this is an observational study. You will continue to receive your standard medical care; no new treatments are given as part of this research.

Do I need to go for extra appointments?

No, this study uses information from your regular check-ups and treatments you're already having for your Fabry disease.

Who is running this study?

The study is being conducted by researchers at the Fabry Center Wuerzburg (FAZiT) in Germany.

How to find out more

Peter Nordbeck, MD, PhD

nordbeck_p@ukw.de 004993120139181 Official trial record

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