Studying Lipids as Potential Biomarkers in Patients With Fabry Disease
NCT ID: NCT05046379
Last Updated: 2024-10-01
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
108 participants
OBSERVATIONAL
2021-10-14
2024-04-28
Brief Summary
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Correlate levels of lipids in patients with Fabry disease to clinical outcomes/manifestations of the disease.
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Detailed Description
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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
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Study Design
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OTHER
PROSPECTIVE
Study Groups
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Patients with Fabry disease
Adult men and women with well characterized Fabry disease
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.
Healthy controls (with no Fabry disease)
Adult men and women from the endocrinology and nephrology in- or out-patient clinic
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.
Interventions
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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.
Eligibility Criteria
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Inclusion Criteria
* 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.
* 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
* Liver disease with elevated transaminases
* Ongoing infection
18 Years
ALL
Yes
Sponsors
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Karolinska University Hospital
OTHER
Uppsala University Hospital
OTHER
Sahlgrenska University Hospital
OTHER
Vastra Gotaland Region
OTHER_GOV
Responsible Party
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Principal Investigators
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Maria Blomqvist, Ass.Prof.
Role: PRINCIPAL_INVESTIGATOR
Västra Götalandsregion
Locations
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Sahlgrenska University Hospital
Gothenburg, , Sweden
Karolinska University Hospital
Stockholm, , Sweden
Akademiska University Hospital
Uppsala, , Sweden
Countries
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Other Identifiers
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Lipidomics in Fabry
Identifier Type: -
Identifier Source: org_study_id
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