Fabry disease Nutritional, Metabolic, Endocrine
Conditions
Interventions
Collection of blood and urine samples
24-hour non-invasive home measure of blood pressure and blood vessel function (optional)
Sponsors
University of Edinburgh
Eligibility
Sex/Gender
All
Age
16 Years to 100 Years
Inclusion criteria
Inclusion criteria: 1. Diagnosis of Fabry disease (biochemical and/or genetic diagnosis) 2. Aged 16 years or over 3. Able to give informed consent 4. Not on immunosuppressive medications (e.g., previous transplant) which could impact immunogenicity 5. Never received gene-therapy for Fabry disease 6. No upper age limit
Exclusion criteria
Exclusion criteria: 1. On immunosuppressive medication (equivalent to >7.5 mg prednisolone daily) 2. Treated with gene therapy for Fabry Disease 3. Unable to give informed consent
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Cross-reactivity of existing patient anti-drug antibodies to the new designed enzymes tested using enzyme-linked immunosorbent assays (ELISA) in patient sera and reported relative to wild-type enzyme and existing treatments at a single timepoint | — |
Secondary
| Measure | Time frame |
|---|---|
| Associations between immune-reactivity to the new designed enzymes compared to the clinical phenotype of the patient (defined as classical or late onset); sex; prior treatment exposure (type of enzyme replacement therapy), plasma lyso-GB3 (measured using liquid chromatography tandem mass spectrometry) and ambulatory blood pressure and vascular stiffness (measured using Mobil-o-Graph NG 24hr ABPM System) at a single timepoint | — |
Countries
Scotland, United Kingdom
Contacts
Public ContactEve Miller-Hodges
Outcome results
None listed