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NCT05046379 Clinical Trial

Studying Lipids as Potential Biomarkers in Patients With Fabry Disease

Fabry Disease Clinical Trial

Official title:
Lipidomics for Identification of New Biomarkers for Fabry Disease

Clinical Trial Details — Status: Completed

Administrative data
NCT number NCT05046379
Other study ID # Lipidomics in Fabry
Secondary ID
Status Completed
Phase
First received
Last updated
Start date October 14, 2021
Est. completion date April 28, 2024

Study information
Verified date April 2024
Source Vastra Gotaland Region
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.

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).

Recruitment information / eligibility
Status Completed
Enrollment 108
Est. completion date April 28, 2024
Est. primary completion date April 28, 2024
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group 18 Years and older
Eligibility 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

Study Design

Related Conditions & MeSH terms

Locations
Country Name City State
Sweden Sahlgrenska University Hospital Gothenburg
Sweden Karolinska University Hospital Stockholm
Sweden Akademiska University Hospital Uppsala

Sponsors (4)
Lead Sponsor Collaborator
Vastra Gotaland Region Göteborg University, Karolinska University Hospital, Uppsala University Hospital

Country where clinical trial is conducted

Sweden, 

Outcome
Type Measure Description Time frame Safety issue
Primary Lipidomics Lipid species from several lipid classes 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.
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