Studying Lipids as Potential Biomarkers in Patients With Fabry Disease

Overview

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.

Full Title of Study: “Lipidomics for Identification of New Biomarkers for Fabry Disease”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: December 2024

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).

Arms, Groups and Cohorts

  • 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

Clinical Trial Outcome Measures

Primary Measures

  • 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

Participating in This Clinical Trial

Inclusion criteria for cases:

  • Adult men and women – Well characterized Fabry disease in terms of i. alpha-Gal A enzyme activity, ii. mutation in 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

Gender Eligibility: All

Minimum Age: 18 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • Vastra Gotaland Region
  • Collaborator
    • Karolinska University Hospital
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Maria Blomqvist, Ass.Prof., Principal Investigator, Västra Götalandsregion
  • Overall Contact(s)
    • Dimitrios Chantzichristos, MD PhD, +46313428547, dimitrios.chantzichristos@vgregion.se

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