Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease

Pilot Study to Assess Clinical and Pivotal Biomarkers in the Urine to Predict the Progression of Nephropathy in Fabry Disease

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06065605

Enrollment

Registered

2023-10-04

Start date

2023-09-14

Completion date

2025-09-12

Last updated

2023-10-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Fabry Disease

Keywords

Urine collection, biomarkers, CKD, Early detection

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

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to 80 Years

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.

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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.

Countries

United States

Contacts

Primary ContactOzlem Goker-Alpan, M.D.

Ogoker-alpan@ldrtc.org703-261-6220

Backup ContactMargarita Ivanova, Ph.D.

mivanova@ldrtc.org703-261-6220

Outcome results