Pilot Study to Assess Clinical and Pivotal Biomarkers in the Urine to Predict the Progression of Nephropathy in Fabry Disease
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 40
- 试验地点
- 1
- 主要终点
- identify urinary inflammatory biomarkers associated with nephropathy in Fabry disease, Units pg/ml
研究概览
简要总结
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.
详细描述
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
- Il-4
- Il-6
- IL-8
- Il-10
- Il-12
- Il-18
- MCP1
- TGF-β1
- IFN-γ
- TNF-α
- IL-1β
- RANTES
- BAFF
- APRIL
- PAI-1 Biomarkers of kidney function and proteinuria
- B2M
- Bikunin
- NGAL
- Osteopontin
- Clusterin
- Creatinine Acute kidney injury
- KIM-1
- YKL-40
- EGF
- CK-18 M30
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 80 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
identify urinary inflammatory biomarkers associated with nephropathy in Fabry disease, Units pg/ml
时间窗: through study completion, an average of 2 years
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.
次要结局
- Identify biomarkers of renal glomerular function, tubular injury and endothelial dysfunction. Units pg/ml(through study completion, an average of 2 years)