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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT06065605
Other study ID # 23-LDRTC-01
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date September 14, 2023
Est. completion date September 12, 2025

Study information

Verified date September 2023
Source Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Contact Ozlem Goker-Alpan, M.D.
Phone 703-261-6220
Email Ogoker-alpan@ldrtc.org
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


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


Recruitment information / eligibility

Status Recruiting
Enrollment 40
Est. completion date September 12, 2025
Est. primary completion date July 12, 2025
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group 18 Years to 80 Years
Eligibility 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 a-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


Related Conditions & MeSH terms


Locations

Country Name City State
United States Lysosomal & Rare Disorders Research & Treatment Center Fairfax Virginia
United States Lysosomal & Rare Disorders Research & Treatment Center Rockville Maryland

Sponsors (1)

Lead Sponsor Collaborator
Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary identify urinary inflammatory biomarkers associated with nephropathy in Fabry disease, Units pg/ml IL-1ß, TNF-a, IL-6, Il-4, IL-8, Il-10, Il-12, Il-18, MCP1, RANTES, BAFF, APRIL, TGF-ß1, INF-gamma, and PAI-1will be measured in urine. through study completion, an average of 2 years
Secondary 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. through study completion, an average of 2 years
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