NCT05046379

Studying Lipids as Potential Biomarkers in Patients With Fabry Disease

Lipidomics for Identification of New Biomarkers for Fabry Disease

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 108 (actual)
• Sponsor: Vastra Gotaland Region · Other Government
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

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).

Conditions

• Fabry Disease

Interventions

Type	Name	Description
OTHER	Lipidomics	Lipidomics is the large-scale study of lipids (fats and fat-like molecules) within biological systems. It involves identifying and quantifying the wide variety of lipids in cells, tissues, or organisms to understand their roles in metabolism, signaling, and disease. Lipidomics is a subfield of metabolomics and uses advanced analytical techniques, like mass spectrometry, to profile lipid molecules. It helps in studying how lipids contribute to cellular functions, disease development, and responses to therapies.

Timeline

• Start date: 2021-10-14
• Primary completion: 2024-04-28
• Completion: 2024-04-28
• First posted: 2021-09-16
• Last updated: 2024-10-01

Locations

3 sites across 1 country: Sweden