Clinical trial NCT06065605: Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease
Official title: Pilot Study to Assess Clinical and Pivotal Biomarkers in the Urine to Predict the Progression of Nephropathy in Fabry Disease
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Fabry Disease
Keywords: Urine collection
biomarkers
CKD
Early detection
Lead sponsor: Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Sponsor class: OTHER
First posted: 2023-10-04
Enrollment: 40
Sex: ALL
Minimum age (years): 18
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: There is no particular study population being investigated. Only patient with Fabry disease and healthy controls from across the world will be enrolled in the study.

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

Eligibility criteria: 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.

Primary outcomes:
measure: identify urinary inflammatory biomarkers associated with nephropathy in Fabry disease, Units pg/ml
timeFrame: through study completion, an average of 2 years
Secondary outcomes:
measure: Identify biomarkers of renal glomerular function, tubular injury and endothelial dysfunction. Units pg/ml
timeFrame: through study completion, an average of 2 years
Other outcomes:
Locations:
city: Rockville
country: United States
facility: Lysosomal & Rare Disorders Research & Treatment Center
state: Maryland
city: Fairfax
country: United States
facility: Lysosomal & Rare Disorders Research & Treatment Center
state: Virginia
Study officials:
References: