Pilot Study to Assess Clinical and Pivotal Biomarkers in the Urine to Predict the Progression of Nephropathy in Fabry Disease
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Fabry Disease
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
- Enrollment
- 40
- Locations
- 1
- Primary Endpoint
- identify urinary inflammatory biomarkers associated with nephropathy in Fabry disease, Units pg/ml
- Status
- Recruiting
- Last Updated
- 2 years ago
Overview
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
Investigators
Eligibility Criteria
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.
Outcomes
Primary Outcomes
identify urinary inflammatory biomarkers associated with nephropathy in Fabry disease, Units pg/ml
Time Frame: 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 Outcomes
- Identify biomarkers of renal glomerular function, tubular injury and endothelial dysfunction. Units pg/ml(through study completion, an average of 2 years)