Studying Lipids as Potential Biomarkers in Patients With Fabry Disease

Completed

• Conditions: Fabry Disease
• Interventions: Other: Lipidomics

• Registration Number: NCT05046379
• Lead Sponsor: Vastra Gotaland Region

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).

Study Timeline

• Study First Submitted: 2021-09-06
• Study First Submitted QC: 2021-09-15
• Study First Posted: 2021-09-16
• Study Start: 2021-10-14
• Status Verified: 2024-04
• Primary Completion: 2024-04-28
• Study Completion: 2024-04-28
• Last Update Submitted: 2024-09-26
• Last Update Posted: 2024-09-30

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 108

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Healthy controls (with no Fabry disease)	Lipidomics	Adult men and women from the endocrinology and nephrology in- or out-patient clinic
Patients with Fabry disease	Lipidomics	Adult men and women with well characterized Fabry disease

Primary Outcome Measures

Name	Time	Method
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

Trial Locations

Locations (3)

Karolinska University Hospital; 🇸🇪 Stockholm, Sweden

Sahlgrenska University Hospital; 🇸🇪 Gothenburg, Sweden

Akademiska University Hospital; 🇸🇪 Uppsala, Sweden