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Studying Lipids as Potential Biomarkers in Patients With Fabry Disease

Sponsor
Vastra Gotaland Region (Other)
Overall Status
Enrolling by invitation
CT.gov ID
NCT05046379
Collaborator
Karolinska University Hospital (Other), Uppsala University Hospital (Other), Göteborg University (Other)
100
Enrollment
3
Locations
37.6
Anticipated Duration (Months)
33.3
Patients Per Site
0.9
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

    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 Design

    Study Type:
    Observational
    Anticipated Enrollment :
    100 participants
    Observational Model:
    Case-Control
    Time Perspective:
    Prospective
    Official Title:
    Lipidomics for Identification of New Biomarkers for Fabry Disease
    Actual Study Start Date :
    Oct 14, 2021
    Anticipated Primary Completion Date :
    Dec 1, 2024
    Anticipated Study Completion Date :
    Dec 1, 2024

    Arms and Interventions

    Arm Intervention/Treatment
    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

    Outcome Measures

    Primary Outcome Measures

    1. 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

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    18 Years and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes
    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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Sahlgrenska University Hospital Gothenburg Sweden
    2 Karolinska University Hospital Stockholm Sweden
    3 Akademiska University Hospital Uppsala Sweden

    Sponsors and Collaborators

    • Vastra Gotaland Region
    • Karolinska University Hospital
    • Uppsala University Hospital
    • Göteborg University

    Investigators

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

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Vastra Gotaland Region
    ClinicalTrials.gov Identifier:
    NCT05046379
    Other Study ID Numbers:
    • Lipidomics in Fabry
    First Posted:
    Sep 16, 2021
    Last Update Posted:
    Oct 22, 2021
    Last Verified:
    May 1, 2021
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by Vastra Gotaland Region
    Biomarkers
    Fabry disease
    Lipidomics
    Additional relevant MeSH terms:
    Fabry Disease

    Study Results

    No Results Posted as of Oct 22, 2021