Studying Lipids as Potential Biomarkers in Patients With Fabry Disease

April 29, 2024 updated by: Vastra Gotaland Region

Lipidomics for Identification of New Biomarkers for Fabry Disease

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.

Study Overview

Status

Completed

Conditions

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 Type

Observational

Enrollment (Actual)

108

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Sweden
      • Gothenburg, Sweden
        • Sahlgrenska University Hospital
      • Stockholm, Sweden
        • Karolinska University Hospital
      • Uppsala, Sweden
        • Akademiska University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

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.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Prospective

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Lipidomics
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.
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.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Vastra Gotaland Region

Collaborators

Karolinska University Hospital
Göteborg University
Uppsala University Hospital

Investigators

  • Principal Investigator: Maria Blomqvist, Ass.Prof., Västra Götalandsregion

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 14, 2021

Primary Completion (Actual)

April 28, 2024

Study Completion (Actual)

April 28, 2024

Study Registration Dates

First Submitted

September 6, 2021

First Submitted That Met QC Criteria

September 15, 2021

First Posted (Actual)

September 16, 2021

Study Record Updates

Last Update Posted (Actual)

April 30, 2024

Last Update Submitted That Met QC Criteria

April 29, 2024

Last Verified

April 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Lipidomics in Fabry

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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