A heart disease that is difficult to treat can sometimes conceal a rare genetic disease known as Fabry disease, which can lead to Fabry cardiomyopathy. The disease is caused by an enzyme deficiency and sometimes remains undiagnosed. Those affected would benefit from a correct diagnosis because the disease can be treated in a targeted manner using enzyme replacement.
This project takes place at the University Hospital Zurich and the HerzGefässMedizin Klinik im Park and is an observational study. The project is scheduled to last two years, during which time we could examine 600-1000 patients. This project will be carried out in accordance with Swiss law. The responsible ethics committee has examined and approved this project.
Aim of the study
You have been asked to take part in this screening project because you suffer from heart disease.
With the help of this project, we want to find out how often a previously unrecognized Fabry cardiomyopathy occurs among patients with heart disease in the cardiology outpatient clinics of the University Hospital Zurich and the HerzGefässMedizin Hirslanden-Klinik im Park. This knowledge will help to raise awareness of the rare disease among the doctors treating it. If a diagnosis is made, you will be recommended a targeted therapy.
Who can take part?
Anyone who suffers from heart failure can take part. You must also be over 18 years of age and not suffer from severe memory problems.
Procedure
With your consent, a few drops of blood will be applied to a filter card from the planned blood sample. The card is encrypted. This means that your name and date of birth are replaced by a number. The encrypted card is sent to our genetic partner laboratory, where the gene affected in Fabry disease and two disease activity markers are examined. The digital key is stored securely with the project managers. After the examination, the card is destroyed.
If you are diagnosed with Fabry disease, we will contact you by telephone and recommend further clarification and treatment. Your family doctor will be informed of the diagnosis. If you do not wish to do so, you are welcome to inform your investigator/project management. For the individual participant, participation in the study ends after a single blood sample has been taken.
Compensation
If you participate in this project, you will not receive any compensation.
Original study name
Screening for Fabry disease among patients with Heart Failure
BASEC number
2017-00918
Sponsors
The project is mainly funded by the diagnostic laboratory ARCHIMED Life Science Oesterreich.