Lipidomics for Identification of New Biomarkers for Fabry Disease
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Fabry Disease
- Sponsor
- Vastra Gotaland Region
- Enrollment
- 108
- Locations
- 3
- Primary Endpoint
- Lipidomics
- Status
- Completed
- Last Updated
- last year
Overview
Brief Summary
Compare levels of lipids between well characterised enzymatically-genetically-phenotypically patients with Fabry disease and healthy controls (with no Fabry disease).
Correlate levels of lipids in patients with Fabry disease to clinical outcomes/manifestations of the disease.
Detailed Description
The hypothesis is that Sphingosine-1 Phosphate (S1P) or any other related sphingoid bases and/or other lipid class could be a marker of the severity of cardiovascular remodelling in Fabry disease. The overall approach is, by minimising possible pre-analytical and analytical biases, to study by lipidomics in well characterised enzymatically, genetically and phenotypically patients with Fabry disease, if S1P or any other lipid (including other glycosphingolipids) is shown to be a biomarker for the diagnosis, monitoring of disease activity and prognosis (including cardiovascular outcomes).
Investigators
Eligibility Criteria
Inclusion Criteria
- Not provided
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Lipidomics
Time Frame: Samples are going be collected during 1 year at the fasting state in the morning. At a random day in both Fabry patients with no treatment and cases. Up to 24 hours before next treatment in Fabry patients with ongoing treatment.
Lipid species from several lipid classes