An observational study in Fabry Disease, sponsored by Vastra Gotaland Region. Completed at 3 sites in Sweden. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-10-01.
Sponsored by Vastra Gotaland Region · Observational
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.
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).
242 studies on the registry are indexed under Fabry Disease; 54 are open to participants now.
This study's enrollment of 108 is close to the median of 100 across 123 observational studies indexed under Fabry Disease.
Browse Fabry Disease studies →Vastra Gotaland Region is the lead sponsor of 267 studies on the registry; 107 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Adult men and women with well characterized Fabry disease and adult men and women with no Fabry disease and liver disease with elevated transaminases and ongoing infection.
Inclusion criteria for cases:
Signed informed consent prior to sample collection is mandatory for inclusion to the study.
Inclusion criteria for controls:
Exclusion criteria for controls:
Adult men and women with well characterized Fabry disease
Other: Lipidomics
Adult men and women from the endocrinology and nephrology in- or out-patient clinic
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.
Lipidomics
Lipid species from several lipid classes
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.
Plan to share: No
No publications or documents are linked to this record.
This study is completed, as verified in Apr 2024. You cannot join it, but the record below documents what was studied.
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Vastra Gotaland Region