Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease

Lysosomal and Rare Disorders Research and Treatment Center, Inc.40 enrolled

Overview

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.

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 Type

OBSERVATIONAL

Enrollment

Conditions

Fabry Disease

Eligibility

Sex: ALLMin age: 18 YearsMax age: 80 YearsHealthy volunteers:

Medical Language ↔ Plain English

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.

Locations (2)

Lysosomal & Rare Disorders Research & Treatment Center

Rockville, Maryland, United States

RECRUITING

Lysosomal & Rare Disorders Research & Treatment Center

Fairfax, Virginia, United States

RECRUITING

Outcomes

Primary Outcomes

identify urinary inflammatory biomarkers associated with nephropathy in Fabry disease, Units pg/ml

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.

Time frame: through study completion, an average of 2 years

Secondary Outcomes

Identify biomarkers of renal glomerular function, tubular injury and endothelial dysfunction. Units pg/ml

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

Time frame: through study completion, an average of 2 years

Central Contacts

Ozlem Goker-Alpan, M.D.

CONTACT

703-261-6220 Ogoker-alpan@ldrtc.org

Margarita Ivanova, Ph.D.

CONTACT

703-261-6220 mivanova@ldrtc.org

Data from ClinicalTrials.gov

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