Screening test for Fabry disease in patients receiving haemodialysis in England

Not Applicable

• Conditions: Fabry disease; Nutritional, Metabolic, Endocrine; Other sphingolipidosis

• Registration Number: ISRCTN44751506
• Lead Sponsor: niversity Hospitals Birmingham NHS Foundation Trust

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2021-05-26
• Last Update Posted: 9 January 2023
• Study Completion: 2023-12-31

Recruitment & Eligibility

• Status: Ongoing
• Sex: All
• Target Recruitment: 2200

Inclusion Criteria

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

Exclusion Criteria

Does not meet inclusion criteria

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Prevalence of Fabry disease as defined by dried blood spot alfa-galactosidase A (GLA) enzyme activity, Lyso-Gb3 level and genetic mutation of GLA analysis at a single timepoint

Secondary Outcome Measures

Name	Time	Method
<br> 1. Clinical characteristics of new cases of Fabry disease identified by the study, including age, gender, ethnicity, duration of dialysis, cardiovascular history, previous renal diagnosis and previous renal biopsy report, measured using review of medical records at the time of study recruitment<br> 2. Fabry disease symptoms measured using a questionnaire designed by the SoFAH study which consists of six questions at the time of study recruitment (single timepoint)<br> 3. Quality of life measured using EQ5D-5L at the time of study recruitment (single timepoint)<br>