Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease

Fabry Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06065605
• Other study ID #: 23-LDRTC-01
• Status: Recruiting
• 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
• 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.

Related Conditions & MeSH terms

• Fabry Disease

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