Prospective Research Rare Kidney Stones (ProRKS) (ProRKS)

November 20, 2023 updated by: John Lieske, Mayo Clinic
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 Overview

Status

Recruiting

Conditions

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 Type

Observational

Enrollment (Estimated)

220

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Canada
    • Ontario
      • Toronto, Ontario, Canada, M5G 1X8
        • Not yet recruiting
        • Hosptial of Sick Children
        • Contact:
        • Contact:
        • Principal Investigator:
          • Elizabeth Harvey, MD
  • Iceland
      • Reykjavik, Iceland
        • Not yet recruiting
        • Landspitali Universtiy Hospital
        • Contact:
        • Principal Investigator:
          • Vidar Edvardsson, MD
  • Israel
      • Jerusalem, Israel
        • Not yet recruiting
        • Shaare Zedek Medica Center
        • Contact:
        • Principal Investigator:
          • Yaacov Frishberg, MD
  • United States
    • Alabama
      • Birmingham, Alabama, United States, 35294
        • Not yet recruiting
        • University of Alabama @ Birmingham
        • Principal Investigator:
          • Dean Assimos, MD
        • Contact:
    • Florida
      • Jacksonville, Florida, United States, 32224
        • Not yet recruiting
        • Mayo Clinic Jacksonville
        • Contact:
        • Contact:
        • Principal Investigator:
          • William Haley, MD
    • Illinois
      • Chicago, Illinois, United States, 60614
        • Not yet recruiting
        • Children's Memorial Hospital
        • Contact:
        • Principal Investigator:
          • Craig Langman, M.D.
    • Massachusetts
    • Minnesota
      • Rochester, Minnesota, United States, 55905
    • New York
      • New York, New York, United States, 10010
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Not yet recruiting
        • Cincinnati Children's Hosptial Medical Center
        • Contact:
        • Principal Investigator:
          • Prasad Decarajan, MD
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Not yet recruiting
        • Children's Hospital of Philadelphia
        • Contact:
        • Principal Investigator:
          • Lawrence Copelovitch, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency, Lowe syndrome, Dent Disease Carriers and Enteric Hyperoxaluria

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
Annually for 5 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Longitudinal changes in eGFR
Time Frame: Annually for 5 years
changes in eGFR during the 5 years
Annually for 5 years

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
Development of new onset CKD
Time Frame: Annually for 5 years
Development of new onset CKD stage 4 (eGFR<30) or stage 5 (eGFR<15)
Annually for 5 years
Lithogenic substances in the urine
Time Frame: Annually for 5 years
Quantity of change in the substance in the urine
Annually for 5 years
Protein in the urine
Time Frame: Annually for 5 years
change in protein in the urine
Annually for 5 years
Stone events
Time Frame: Annually for 5 years
change in number of stone events
Annually for 5 years
Quality of Life
Time Frame: Annually for 5 years
change in the quality of life score
Annually for 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Mayo Clinic

Investigators

  • Principal Investigator: John Lieske, MD, Mayo Clinic

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

May 1, 2016

Primary Completion (Estimated)

July 1, 2024

Study Completion (Estimated)

July 1, 2024

Study Registration Dates

First Submitted

May 11, 2016

First Submitted That Met QC Criteria

May 20, 2016

First Posted (Estimated)

May 23, 2016

Study Record Updates

Last Update Posted (Estimated)

November 21, 2023

Last Update Submitted That Met QC Criteria

November 20, 2023

Last Verified

November 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 16-000494

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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