Fabry disease Nutritional, Metabolic, Endocrine Other sphingolipidosis
Conditions
Interventions
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 opport
Sponsors
University Hospitals Birmingham NHS Foundation Trust
Eligibility
Sex/Gender
All
Age
18 Years to 110 Years
Inclusion criteria
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
Exclusion criteria: Does not meet inclusion criteria
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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
| Measure | Time frame |
|---|---|
| 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 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) 3. Quality of life measured using EQ5D-5L at the time of study recruitment (single timepoint) | — |
Countries
England, United Kingdom
Outcome results
None listed