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Clinical Trials/NCT02780297
NCT02780297RecruitingNot Applicable

Prospective Research Rare Kidney Stones (ProRKS)

Mayo Clinic11 sites in 4 countries220 target enrollmentStarted: May 1, 2016Last updated:
Conditions

Trial Snapshot

Phase
Not Applicable
Status
Recruiting
Enrollment
220
Locations
11
Primary Endpoint
inflammatory blood and urinary biomarkers

Study Overview

Brief Summary

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.

Detailed Description

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.

Study Design

Study Type
Observational
Observational Model
Cohort
Time Perspective
Prospective

Eligibility Criteria

Sex
All
Accepts Healthy Volunteers
No

Inclusion Criteria

  • •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

Exclusion Criteria

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

Arms & Interventions

Primary Hyperoxaluria Patients

Patients with confirmed diagnosis of Primary Hyperoxaluria.

Dent Disease Patients

Patients with confirmed diagnosis of Dent Disease.

Enteric Hyperoxaluria Patients

Patients with confirmed diagnosis enteric hyperoxaluria.

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

Outcomes

Primary Outcomes

inflammatory blood and urinary biomarkers

Time Frame: Annually for 5 years

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

Secondary Outcomes

  • Longitudinal changes in eGFR(Annually for 5 years)

Investigators

Sponsor Class
Other
Responsible Party
Principal Investigator
Principal Investigator

John Lieske

PI

Mayo Clinic

Study Sites (11)

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