Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease

Recruiting

• Conditions: Fabry Disease

• Registration Number: NCT06065605
• Lead Sponsor: Lysosomal and Rare Disorders Research and Treatment Center, Inc.

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.

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 Timeline

• Status Verified: 2023-09
• Study First Submitted: 2023-09-11
• Study Start: 2023-09-14
• Study First Submitted QC: 2023-09-29
• Last Update Submitted: 2023-09-29
• Study First Posted: 2023-10-04
• Last Update Posted: 2023-10-04
• Primary Completion: 2025-07-12
• Study Completion: 2025-09-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 40

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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

Name	Time	Method
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.

Trial Locations

Locations (1)

Lysosomal & Rare Disorders Research & Treatment Center; 🇺🇸 Fairfax, Virginia, United States