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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.
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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Fabry patients without clinical evidence of nephropathy | No deterioration of kidney function. | ||
| Fabry patients with clinical evidence of nephropathy | Deterioration of kidney function. | ||
| Naïve Fabry patients | These patients have no received treatment. | ||
| Healthy controls | Not diagnosed with Fabry disease. |
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| Measure | Description | Time Frame |
|---|---|---|
| identify urinary inflammatory biomarkers associated with nephropathy in Fabry disease, Units pg/ml | 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. | through study completion, an average of 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| 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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Inclusion Criteria:
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Ozlem Goker-Alpan, M.D. | Contact | 703-261-6220 | Ogoker-alpan@ldrtc.org | |
| Margarita Ivanova, Ph.D. | Contact | 703-261-6220 | mivanova@ldrtc.org |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Lysosomal & Rare Disorders Research & Treatment Center | Recruiting | Rockville | Maryland | 20853 | United States |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot | Yes | No | No | Study Protocol | Jun 15, 2023 | Sep 11, 2023 | Prot_000.pdf |
| ICF | No | No | Yes | Informed Consent Form | Sep 5, 2023 | Sep 11, 2023 | ICF_001.pdf |
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| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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Urine sample.
| Lysosomal & Rare Disorders Research & Treatment Center | Recruiting | Fairfax | Virginia | 22030 | United States |
|
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |