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Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease

Sponsor
Lysosomal and Rare Disorders Research and Treatment Center, Inc. (Other)
Overall Status
Recruiting
CT.gov ID
NCT06065605
Collaborator
(none)
40
Enrollment
2
Locations
24
Anticipated Duration (Months)
20
Patients Per Site
0.8
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The purpose of this research is to collect biological samples (urine) to develop assays for immune biomarkers to possibly in the future be able to screen subjects with Fabry disease and be able to understand better progression of nephropathy in Fabry disease and predict nephropathy in Fabry disease.

Condition or Disease Intervention/Treatment Phase

    Detailed Description

    This is a study to assess the markers related to autophagy, apoptosis, pyroptosis, and inflammatory markers related to NFkB, TNF-alpha, and TGF-β1 pathways in the urine. Urinary biomarkers will then be compared to the standard measures of kidney function and proteinuria: GFR, cystatin-C, B2M, bikunin, NGAL. Gb3 and Lyso-Gb3, urine microalbumin, and urine protein-to-creatinine (UPCR) ratio. Investigators will also analyze the role of therapy, especially for the inflammatory responses in participants on stable enzyme replacement therapy (ERT) with that of patients naïve to therapy.

    There will be a total of 25 biomarkers that will be assessed during the study. Biomarkers of inflammation

    1. Il-4

    2. Il-6

    3. IL-8

    4. Il-10

    5. Il-12

    6. Il-18

    7. MCP1

    8. TGF-β1

    9. IFN-γ

    10. TNF-α

    11. IL-1β

    12. RANTES

    13. BAFF

    14. APRIL

    15. PAI-1 Biomarkers of kidney function and proteinuria

    16. B2M

    17. Bikunin

    18. NGAL

    19. Osteopontin

    20. Clusterin

    21. Creatinine Acute kidney injury

    22. KIM-1

    23. YKL-40

    24. EGF

    25. CK-18 M30

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    40 participants
    Observational Model:
    Case-Control
    Time Perspective:
    Prospective
    Official Title:
    Pilot Study to Assess Clinical and Pivotal Biomarkers in the Urine to Predict the Progression of Nephropathy in Fabry Disease
    Actual Study Start Date :
    Sep 14, 2023
    Anticipated Primary Completion Date :
    Jul 12, 2025
    Anticipated Study Completion Date :
    Sep 12, 2025

    Arms and Interventions

    Arm Intervention/Treatment
    Fabry patients without clinical evidence of nephropathy

    No deterioration of kidney function.
    Fabry patients with clinical evidence of nephropathy

    Deterioration of kidney function.
    Naïve Fabry patients

    These patients have no received treatment.
    Healthy controls

    Not diagnosed with Fabry disease.

    Outcome Measures

    Primary Outcome Measures

    1. identify urinary inflammatory biomarkers associated with nephropathy in Fabry disease, Units pg/ml [through study completion, an average of 2 years]

      IL-1β, TNF-α, IL-6, Il-4, IL-8, Il-10, Il-12, Il-18, MCP1, RANTES, BAFF, APRIL, TGF-β1, INF-gamma, and PAI-1will be measured in urine.

    Secondary Outcome Measures

    1. Identify biomarkers of renal glomerular function, tubular injury and endothelial dysfunction. Units pg/ml [through study completion, an average of 2 years]

      B2M, GFR, albumin, cystatin C, osteopontin, clusterin, creatinine, EGF, NGAL, KIM-1, alpha-1-microglobulin, bikunin, YKL-40, CK-18 M30.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    18 Years to 80 Years
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes
    Inclusion Criteria:

    • Male and Female subject is greater than 18 but not older than 80 years.

    • Subject willing to sign the informed consent and/or assent.

    • Confirmed diagnosis of Fabry disease based on deficient α-Gal A enzymatic activity and molecular analysis demonstrating pathogenic variants in the GLA gene.

    Exclusion Criteria:

    • Any other known genetic condition associated with CKD.

    • Evidence of hepatitis B or C infections or other chronic infectious diseases,

    • Pregnancy or breastfeeding.

    • Any other chronic condition, as per PI's discretion, that makes the subject ineligible.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Lysosomal & Rare Disorders Research & Treatment Center Rockville Maryland United States 20853
    2 Lysosomal & Rare Disorders Research & Treatment Center Fairfax Virginia United States 22030

    Sponsors and Collaborators

    • Lysosomal and Rare Disorders Research and Treatment Center, Inc.

    Investigators

    None specified.

    Study Documents (Full-Text)

    More Information

    Publications

    None provided.
    Responsible Party:
    Lysosomal and Rare Disorders Research and Treatment Center, Inc.
    ClinicalTrials.gov Identifier:
    NCT06065605
    Other Study ID Numbers:
    • 23-LDRTC-01
    First Posted:
    Oct 4, 2023
    Last Update Posted:
    Oct 4, 2023
    Last Verified:
    Sep 1, 2023
    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 Lysosomal and Rare Disorders Research and Treatment Center, Inc.
    Urine collection
    biomarkers
    CKD
    Early detection
    Additional relevant MeSH terms:
    Fabry Disease

    Study Results

    No Results Posted as of Oct 4, 2023