Rare Kidney Stone Consortium Patient Registry (RKSC)

Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases

The purpose of this study is to collect medical information from a large number of patients in many areas of the world with primary hyperoxaluria (PH), Dent disease, Cystinuria and APRT deficiency. This information will create a registry that will help us to compare similarities and differences in patients and their symptoms. The more patients we are able to enter into the registry, the more we will be able to understand the Primary Hyperoxalurias,Dent disease, cystinuria and APRT and learn better ways of caring for patients with these diseases.

Study Overview

• Status: Recruiting
• Conditions: Cystinuria; Primary Hyperoxaluria; Dent Disease; APRT Deficiency

Detailed Description

This study involves the collection of medical information to create a computer database or registry for patients with PH, Dent disease, cystinuria and APRT deficiency. The information will be entered into the registry by your physician or health care provider. The computer web site for the registry is secure and protected by a required password. Some information which will be entered may include your age at first symptoms of PH,Dent disease, cystinuria or APRT, laboratory values, kidney function and the progress of your health over time. Information for an individual patient can only be viewed by the appropriate physician or staff. Once the information is entered into the registry, you will only be identified by a code number.

• Study Type: Observational
• Enrollment (Estimated): 730

Contacts and Locations

• Study Contact: Name: Julie B. Olson, RN; Phone Number: 507-538-5995; Email: rarekidneystones@mayo.edu
• Study Contact Backup: Name: Mayo Clinic Hyperoxaluria Center; Phone Number: 1-800-270-4637; Email: hyperoxaluriacenter@mayo.edu

Study Locations

• Iceland
  • Reykjavik, Iceland
    • Recruiting
    • APRT Registry - Landspitali Universtiy Hospital
    • Contact: Vidar Edvardsson, MD; Phone Number: 354-824-5227; Email: vidare@landspitali.is
    • Contact: Runolfur Palsson, MD; Phone Number: 354-824-5227; Email: runolfur@landspitali.is
    • Principal Investigator: Vidar Edvardsson, MD
• United States
  • Minnesota
    • Rochester, Minnesota, United States, 55905
      • Recruiting
      • Dent Disease Registry -Mayo Clinic
      • Contact: Barb M Seide, Study Coord; Phone Number: 800-270-4637; Email: rarekidneystones@mayo.edu
      • Contact: Julie B Olson, RN Coord; Phone Number: 800-270-4637; Email: rarekidneystones@mayo.edu
      • Principal Investigator: John C Lieske, MD
    • Rochester, Minnesota, United States, 55905
      • Recruiting
      • Primary Hyperoxaluria Registry - Mayo Clinic
      • Contact: Barb M Seide, Study Coord; Phone Number: 800-270-4637; Email: hyperoxaluriacenter@mayo.edu
      • Contact: Julie B Olson, RN Coord; Phone Number: 800-270-4637; Email: hyperoxaluriacenter@mayo.edu
      • Principal Investigator: Dawn S. Milliner, MD
  • New York
    • New York, New York, United States, 10010
      • Recruiting
      • Cystinuria Registry - New York University
      • Contact: David Goldfarb, MD; Phone Number: 212-263-0744; Email: David.Goldfarb@va.gov
      • Contact: Frank Modersitzki, MPH; Phone Number: 6379 216-686-7500; Email: Frank.Modersitzki@nyumc.org
      • Principal Investigator: David Goldfarb, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 100 years (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.

Description

Inclusion Criteria:

• Individuals must have a definitive diagnosis of Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency.
• Individuals have a family history of a sibling with Primary Hyperoxaluria,Dent Disease, Cystinuria or APRT Deficiency.

Exclusion Criteria:

• Individuals who do not have Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency.

Study Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort
Primary Hyperoxaluria patients; Registry will include data on patients with confirmed diagnosis of Primary Hyperoxaluria.
Dent Disease Patients; Registry will include data on patients with confirmed diagnosis of Dent Disease.
Cystinuria Patients; Registry will include data on patients with confirmed diagnosis of Cystinuria.
APRT deficiency Patients; Registry will include data on patients with confirmed diagnosis of APRT deficiency.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Establish and expand registries and collaborate with patient organizations for the rapid dissemination of knowledge	The patient Registries will expand knowledge of the clinical expression of these disease by systematically accumulating and analyzing information regarding a larger number of patients than have been studied to date.	Yearly

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Improved understanding of symptoms and progression of four major diseases of hereditary nephrolithiasis.	The goal of the patient Registries is to collect data about these rare diseases, provide a better understanding of these four conditions and help to develop new treatments.	Yearly

Collaborators and Investigators

• Sponsor: Mayo Clinic
• Collaborators: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National Institutes of Health (NIH); Oxalosis and Hyperoxaluria Foundation (OHF)
• Investigators: Principal Investigator: Dawn S. Milliner, M.D., Primary Hyperoxaluria Registry - Mayo Clinic, Rochester, MN; Study Director: David Goldfarb, MD, Cystinuria Registry, New York University, NY; Study Director: John C Lieske, MD, Dent Disease Registry, Mayo Clinic, Rochester, MN; Study Director: Vidar Edvardsson, MD, APRT Registry, Landspitali University Hospital, Iceland

Publications and helpful links

Helpful Links

• Mayo Clinic Clinical Trials

Study record dates

Study Major Dates

• Study Start: July 1, 2003
• Primary Completion (Estimated): June 1, 2028
• Study Completion (Estimated): June 1, 2028

Study Registration Dates

• First Submitted: December 27, 2007
• First Submitted That Met QC Criteria: December 27, 2007
• First Posted (Estimated): January 8, 2008

Study Record Updates

• Last Update Posted (Actual): July 10, 2026
• Last Update Submitted That Met QC Criteria: July 8, 2026
• Last Verified: July 1, 2026

More Information

Terms related to this study

• Keywords: PH; PH1; PH2; Primary Hyperoxaluria; Oxalate; Cystinuria; Hyperoxaluria; APRT; Dent; PH3; Primary Oxalosis; Cystine; PHI; PHII; PHIII; PH NonI-NonII; Adenine phosphoribosyl transferase deficiency; Dent disease
• Additional Relevant MeSH Terms: Urogenital Diseases; Male Urogenital Diseases; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Genetic Diseases, X-Linked; Carbohydrate Metabolism, Inborn Errors; Renal Tubular Transport, Inborn Errors; Renal Aminoacidurias; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Dent Disease; Hyperoxaluria, Primary; Cystinuria; Adenine phosphoribosyltransferase deficiency; Hyperoxaluria
• Other Study ID Numbers: 11-001702; 1U54DK083908-01 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Using limited data set, data will be shared through the Data Monitoring and Coordinating Center of the Rare Diseases Clinical Research Network.