Menu
Recruiting NCT02780297

Prospective Research Rare Kidney Stones (ProRKS)

Observational Hyperoxaluria Cystinuria Dent Disease Lowe Syndrome

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States, Canada, Iceland, Israel
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Overview

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.

Primary outcome measures

  • inflammatory blood and urinary biomarkers [Time frame: Annually for 5 years]
Secondary outcome measures (1)
  • Longitudinal changes in eGFR [Time frame: Annually for 5 years]

Eligibility criteria

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United States · 8 centers
  • University of Alabama @ Birmingham — Birmingham
  • Mayo Clinic Jacksonville — Jacksonville
  • Children's Memorial Hospital — Chicago
  • Children's Hospital, Harvard Medical School — Boston
  • Mayo Clinic Hyperoxaluria Center — Rochester
  • New York University — New York
  • Cincinnati Children's Hosptial Medical Center — Cincinnati
  • Children's Hospital of Philadelphia — Philadelphia
Canada · 1 center
  • Hosptial of Sick Children — Toronto
Iceland · 1 center
  • Landspitali Universtiy Hospital — Reykjavik
Israel · 1 center
  • Shaare Zedek Medica Center — Jerusalem

Identifiers

NCT: NCT02780297 · 16-000494

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗