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临床试验/NCT02780297
NCT02780297招募中不适用

Prospective Research Rare Kidney Stones (ProRKS)

Mayo Clinic17 个研究点 分布在 4 个国家目标入组 220 人开始时间: 2016年5月1日最近更新:
适应症

试验速览

阶段
不适用
状态
招募中
发起方
Mayo Clinic
入组人数
220
试验地点
17
主要终点
inflammatory blood and urinary biomarkers

研究概览

简要总结

The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluria (PH), cystinuria, Dent disease and adenine phosphoribosyltransferase deficiency (APRTd) and acquired enteric hyperoxaluria (EH). The investigator will measure blood and urinary markers of inflammation and determine relationship to the disease course. Cross-comparisons among the disorders will allow us to better evaluate mechanisms of renal dysfunction in these disorders.

详细描述

Severe, hereditary forms of nephrolithiasis cause marked excretion of insoluble minerals important in stone formation, including primary hyperoxaluria, cystinuria, Dent disease, and adenine phosphoribosyltransferase deficiency (APRTd). Patients with these disorders experience recurring stones from childhood and are at high risk for chronic kidney disease caused by crystal nephropathy. Enteric hyperoxaluria is an acquired disease characterized by hyperoxaluria and calcium oxalate crystal nephropathy associated with chronic kidney disease, and in that respect similar to the inherited stone diseases. The investigators will collect longitudinal data of individual patients in order to provide clues about potentially modifiable factors that influence disease severity and identify factors leading to kidney injury. the investigator will measure blood and urinary markers of inflammation and determine relationship to the disease course. Cross-comparisons among the disorders will allow to better evaluate mechanisms of renal dysfunction in these diseases.

研究设计

研究类型
Observational
观察模型
Cohort
时间视角
Prospective

入排标准

性别
All
接受健康志愿者

入选标准

  • Diagnosis of primary hyperoxaluria
  • Diagnosis of enteric hyperoxaluria
  • Diagnosis of Dent Disease
  • Diagnosis of Cystinuria
  • Diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)
  • Diagnosis of Lowe Syndrome
  • Diagnosis of Dent Disease Carrier

排除标准

  • Prior renal failure
  • History of liver and/or kidney transplant.

研究组 & 干预措施

Primary Hyperoxaluria Patients

Patients with confirmed diagnosis of Primary Hyperoxaluria.

Dent Disease Patients

Patients with confirmed diagnosis of Dent Disease.

Cystinuria Patients

Patients with confirmed diagnosis of Cystinuria.

APRT deficiency Patients

Patients with confirmed diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)

Lowe Syndrome or Dent 2 patients

Patients with confirmed diagnosis of Lowe Syndrome or Dent 2.

Dent 1 carriers

Patients with confirmed diagnosis of Dent 1. Dent 1 carriers

Enteric Hyperoxaluria Patients

Patients with confirmed diagnosis enteric hyperoxaluria.

结局指标

主要结局

inflammatory blood and urinary biomarkers

时间窗: Annually for 5 years

Statistically significant changes (increase or decrease) in inflammatory urinary biomarkers compared to reference values

次要结局

  • Longitudinal changes in eGFR(Annually for 5 years)

研究者

发起方
Mayo Clinic
申办方类型
Other
责任方
Principal Investigator
主要研究者

John Lieske

PI

Mayo Clinic

研究点 (17)

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