Screening for Fabry disease in the haemodialysis population
Fabry disease
All eligible patients are given a patient information sheet (PIS) and consent form by the research nurse during one of their haemodialysis sessions. All potential participants will be given the opportunity to ask questions regarding the study after receiving the PIS, following which the consent will be taken at the next dialysis session 24 to 72 hours later. Written informed consent is obtained by a research nurse prior to the participant undergoing procedures that are specifically for the purposes of the study. In the case of participants who cannot read or write or require translators, the study will allow a witness to sign on a participant’s behalf (in the case of problems with reading or writing), allow a witness to date the form on behalf of the participant and allow a hospital or personal interpreter. Participants' blood will be taken during routine dialysis session at a single timepoint. The blood will be dried on a card and sent for testing to the Archimed Laboratories in Vienna, Austria. In addition, participants will be asked to complete a questionnaire looking for any symptoms suggestive of Fabry disease. The study team will also collect participants’ relevant demographics and clinical data. The study will run for approximately 6 months. All participants who were tested negative for Fabry disease will be notified via letter. No further visits or follow-up will be required unless the participant’s Fabry test is positive. The local kidney consultant involved in this study will inform the participants of the new diagnosis of Fabry disease and refer them to the specialist Fabry disease clinic at the Queen Elizabeth Hospital in Birmingham. Any new cases of Fabry disease identified by the study will continue to receive specialist service at Queen Elizabeth Hospital Birmingham as part of their routine NHS care. The specialist clinic will offer testing for family and relatives as the condition can be inherited. Treatment in the form of enzyme replacement is ava
1. Patients receiving haemodialysis under the care of the six participating renal units 2. Aged 18 years and above 3. Capable of giving informed consent
Does not meet inclusion criteria