Fabry Disease
Conditions
Keywords
Biomarkers, Fabry disease, Lipidomics
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).
Interventions
OTHERLipidomics
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.
Sponsors
Karolinska University Hospital
Uppsala University Hospital
Sahlgrenska University Hospital
Vastra Gotaland Region
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
for cases: * Adult men and women * Well characterized Fabry disease in terms of i. alpha-Gal A enzyme activity, ii. mutation in alpha-Gal A (GLA) gene, and iii. disease manifestations * Followed at one of the 3 centers for patients with Fabry disease in Sweden (Karolinska in Stockholm, Sahlgrenska in Gothenburg, Akademiska in Uppsala) Signed informed consent prior to sample collection is mandatory for inclusion to the study. Inclusion criteria for controls: * Adult men and women * Followed/treated at the endocrinology or nephrology in- or out-patient clinic at Sahlgrenska University Hospital in Gothenburg * Matched for age, sex, estimated Glomerular filtration rate (eGFR) with the cases with Fabry disease
Exclusion criteria
for controls: * Fabry disease * Liver disease with elevated transaminases * Ongoing infection
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Lipidomics | 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 |
Countries
Sweden
Outcome results
None listed