Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease

Last updated: September 29, 2023
Sponsor: Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Overall Status: Active - Recruiting

Phase

N/A

Condition

Fabry Disease

Kidney Disease

Treatment

N/A

Clinical Study ID

NCT06065605
23-LDRTC-01
  • Ages 18-80
  • All Genders
  • Accepts Healthy Volunteers

Study 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.

Eligibility Criteria

Inclusion

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 andmolecular analysis demonstrating pathogenic variants in the GLA gene.

Exclusion

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 subjectineligible.

Study Design

Total Participants: 40
Study Start date:
September 14, 2023
Estimated Completion Date:
September 12, 2025

Study 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

Connect with a study center

  • Lysosomal & Rare Disorders Research & Treatment Center

    Rockville, Maryland 20853
    United States

    Active - Recruiting

  • Lysosomal & Rare Disorders Research & Treatment Center

    Fairfax, Virginia 22030
    United States

    Active - Recruiting

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