Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Status: Enrolling

Conditions: Fabry Disease

Study type: Observational

Funder types: Other

Identifiers

NCT06065605

23-LDRTC-01

Details and patient eligibility

About

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.

Full 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

Enrollment: 40 estimated patients

Sex: All

Ages: 18 to 80 years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

40 participants in 4 patient groups

Fabry patients without clinical evidence of nephropathy

Description:

No deterioration of kidney function.

Fabry patients with clinical evidence of nephropathy

Description:

Deterioration of kidney function.

Naïve Fabry patients

Description:

These patients have no received treatment.

Healthy controls

Description:

Not diagnosed with Fabry disease.