Screening test for Fabry disease in patients receiving haemodialysis in England
Fabry disease is a rare inherited condition that can damage the kidneys, heart, and nervous system. Because its symptoms are similar to other illnesses, people often live with it for many years before getting a correct diagnosis. This study aims to find out how many people receiving haemodialysis across six kidney units in the Midlands have Fabry disease without knowing it. Joining the study is simple. A research nurse collects a small blood sample from your usual dialysis line during a regular appointment, meaning no extra needles are needed. You will also answer a brief health questionnaire. If your test is negative, you will be informed by letter. If the test shows you have Fabry disease, your kidney doctor will explain the result and refer you to a specialist NHS clinic in Birmingham for support, targeted treatments, and testing for your family.
At a glance
What is this study about?
Fabry disease is a rare genetic condition caused by a missing or faulty enzyme in the body. Without enough of this enzyme, fatty substances build up inside cells, gradually causing damage to vital organs such as the kidneys and heart. Many people who have Fabry disease do not know it, and diagnosing it can often take between 14 and 19 years from when symptoms first appear.
This study looks at adults who are currently having haemodialysis at six participating hospital kidney units in the Midlands. In many patients receiving dialysis, the exact original cause of kidney failure is not known. Researchers want to see if undiagnosed Fabry disease is behind some of these cases.
Finding out whether you have Fabry disease is valuable. Although kidney damage may have already occurred, modern treatments like enzyme replacement therapy can help protect your heart and blood vessels from further damage. Because the condition is passed down through genes, a diagnosis also means your relatives can be offered testing, allowing them to get help before serious health problems develop.
Key takeaways
- Tests kidney dialysis patients in the Midlands for an undiagnosed genetic condition called Fabry disease.
- Uses a single blood spot sample taken from your regular dialysis line, with no extra needles.
- Requires only one session with no extra hospital visits needed.
- Helps uncover potential causes of kidney disease and protects heart health.
- Provides access to specialist NHS care and family genetic testing if you test positive.
Who may be eligible?
You may be able to join this study if you are 18 years or older and currently receive regular haemodialysis at one of the six participating NHS kidney units in the Midlands. You must also be able to understand what the study involves and give your own written consent.
You will not be eligible if you do not receive dialysis at one of these specific units, if you are under 18, or if you cannot provide informed consent. Both men and women are welcome 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.
- I am aged 18 or older.
- I currently receive haemodialysis at a participating kidney unit in the Midlands.
- I can understand the study details and give my own consent to participate.
What does participation involve?
Taking part takes place entirely during one of your normal haemodialysis visits. A research nurse will explain the study, give you an information sheet, and ask you to sign a consent form.
A small amount of blood will be drawn directly from your dialysis line and dried onto a paper test card. You will also be asked to fill in a short questionnaire about your symptoms and medical history.
There are no extra hospital visits required for the study itself. If your test comes back negative, you will receive a letter and your participation will be complete. If your result is positive, your kidney doctor will discuss the findings with you. You will then be referred to the specialist Fabry disease clinic at the Queen Elizabeth Hospital in Birmingham for ongoing NHS care, advice on treatments, and screening for your family.
Potential risks and benefits
Locations (7)
- Birmingham Heartlands HospitalApproximateBirmingham, England
- Queen Elizabeth Hospital BirminghamApproximateBirmingham, England
- University Hospital Coventry and WarwickshireCity onlyCoventry, England
- New Cross HospitalApproximateWolverhampton, England
- Royal Stoke University HospitalApproximateStoke-on-Trent, England
- Shrewsbury and Telford Hospital NHS TrustUnverifiedShrewsbury, England
- Russells Hall HospitalUnverifiedDudley, England
Common questions
Will I need any extra needle pricks for this study?
No. The nurse will collect the blood sample directly from your dialysis lines during your regular session.
Will taking part change my normal dialysis routine?
No. The test is carried out during your scheduled dialysis appointment, so your routine will stay the same.
How will I find out my test results?
If your test is negative, you will get a letter in the post. If it is positive, your kidney consultant will arrange to speak with you directly.
What happens if I test positive for Fabry disease?
You will be referred to a specialist NHS clinic at Queen Elizabeth Hospital Birmingham for support, advice, potential treatments, and genetic counselling.
Can my family members be tested as well?
Yes. If your test shows you have Fabry disease, the specialist clinic will offer testing to your close relatives to see if they share the condition.
How to find out more
Indranil Dasgupta
Always speak to your GP or specialist before deciding to take part in a study.
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