Screening for Fabry Disease in Haemodialysis Population (SoFAH) Study
Research type
Research Study
Full title
Screening for Fabry Disease in Haemodialysis Population (SoFAH) Study
IRAS ID
281233
Contact name
Indranil Dasgupta
Contact email
Sponsor organisation
University Hospitals Birmingham NHS Trust
ISRCTN Number
ISRCTN44751506
Duration of Study in the UK
1 years, 0 months, 0 days
Research summary
Fabry disease is a rare genetic condition which can affect the kidneys and lead to kidney failure. Other symptoms include heart disease, stroke, visual disturbance, deafness, pins and needles, skin rashes, and abnormal sweating. As we do not routinely test for it, it often goes undetected.
This study aims to test patients who are receiving haemodialysis at the eight kidney units in the Midlands to find out how many patients suffer from this condition. This will help us to develop better guidelines for screening for the condition and offer treatment to those who have the condition.
To test for the condition, blood sample will be taken once from the dialysis line, during routine dialysis from all patients who agree to take part. The blood will be dried on a card and sent for testing in a laboratory in Vienna, Austria. Participants will also be asked to answer a set of questions, looking for any symptoms of Fabry disease. The study team will also collect other information such as age, gender, ethnicity, and other conditions they suffer from the case note. All participants who are tested negative for Fabry disease will be informed via letter. No further visits will be required. The participants who have a positive Fabry test, the local kidney specialist will let the participants know of the new diagnosis. They will be referred to the specialist Fabry disease clinic at the Queen Elizabeth Hospital in Birmingham as part of NHS care. The specialist clinic will also offer testing for family and relatives as the condition is inherited. Treatment will be given if considered suitable.
The study is organised by the Renal Department at Birmingham Heartlands Hospital, University Hospitals Birmingham NHS Trust. It is funded by Sanofi-Genzyme Company.
REC name
East of England - Essex Research Ethics Committee
REC reference
22/EE/0026
Date of REC Opinion
17 Mar 2022
REC opinion
Further Information Favourable Opinion