Prospective Research Rare Kidney Stones (ProRKS)

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.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: July 2024

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.

Arms, Groups and Cohorts

  • 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.

Clinical Trial Outcome Measures

Primary Measures

  • 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 Measures

  • Longitudinal changes in eGFR
    • Time Frame: Annually for 5 years
    • changes in eGFR during the 5 years

Participating in This Clinical Trial

Inclusion Criteria

1. Diagnosis of primary hyperoxaluria 2. Diagnosis of enteric hyperoxaluria 3. Diagnosis of Dent Disease 4. Diagnosis of Cystinuria 5. Diagnosis of adenine phosphoribosyltransferase deficiency (APRTd) 6. Diagnosis of Lowe Syndrome 7. Diagnosis of Dent Disease Carrier Exclusion Criteria:

1. Prior renal failure 2. History of liver and/or kidney transplant.

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Mayo Clinic
  • Provider of Information About this Clinical Study
    • Principal Investigator: John Lieske, PI – Mayo Clinic
  • Overall Official(s)
    • John Lieske, MD, Principal Investigator, Mayo Clinic
  • Overall Contact(s)
    • Barb Seide, 800-270-4637, RareKidneyStones@mayo.edu

Clinical trials entries are delivered from the US National Institutes of Health and are not reviewed separately by this site. Please see the identifier information above for retrieving further details from the government database.

At TrialBulletin.com, we keep tabs on over 200,000 clinical trials in the US and abroad, using medical data supplied directly by the US National Institutes of Health. Please see the About and Contact page for details.