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RecruitingNCT00588562RKSCUpdated Jul 10, 2026

Rare Kidney Stone Consortium Patient Registry

An observational study in Primary Hyperoxaluria, Dent Disease and Cystinuria, sponsored by Mayo Clinic. Recruiting at 4 sites in 2 countries. Open to participants aged 0 Years to 100 Years. Per ClinicalTrials.gov, last updated 2026-07-10.

Sponsored by Mayo Clinic · Observational

Study type
Observational
Model
Cohort
Time perspective
Other
Enrollment
730
Ages
0 Years to 100 Years
Sex
All
01

Study summary

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.

Read the 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.

02

Conditions studied

  • Primary Hyperoxaluria
  • Dent Disease
  • Cystinuria
  • APRT Deficiency

Keywords

  • PH
  • PH1
  • PH2
  • PH3
  • PHI
  • PHII
  • PHIII
  • PH NonI-NonII
  • Primary Hyperoxaluria
  • Primary Oxalosis
  • Hyperoxaluria
  • Oxalate
  • Cystinuria
  • Cystine
  • APRT
  • Adenine phosphoribosyl transferase deficiency
  • Dent disease
  • Dent
03

In context

Hyperoxaluria, Primary

42 studies on the registry are indexed under Hyperoxaluria, Primary; 11 are open to participants now.

This study's planned enrollment of 730 is close to the median of 730 across 13 observational studies indexed under Hyperoxaluria, Primary.

Browse Hyperoxaluria, Primary studies →

Lead sponsor

Mayo Clinic is the lead sponsor of 3,269 studies on the registry; 672 are open to participants now.

Of its 452 completed or terminated interventional studies of FDA-regulated products, 321 (71%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
0 Years to 100 Years
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency.

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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

Exclusion Criteria:

  • Individuals who do not have Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency.
05

Study design

Observational model
Cohort
Time perspective
Other
Enrollment
730 participants (estimated)
Patient registry
No

Groups and cohorts

  • 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.

06

What researchers measure

Primary outcomes

  1. 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.

    Time frame: Yearly

Secondary outcomes

  1. 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.

    Time frame: Yearly

07

Study locations

4 of 4 sites recruiting
  • Dent Disease Registry -Mayo Clinic
    Rochester, Minnesota 55905, United States
    Recruiting
  • Primary Hyperoxaluria Registry - Mayo Clinic
    Rochester, Minnesota 55905, United States
    Recruiting
  • Cystinuria Registry - New York University
    New York, New York 10010, United States
    Recruiting
  • APRT Registry - Landspitali Universtiy Hospital
    Reykjavik, Iceland
    Recruiting
08

References and documents

Individual participant data

Plan to share: Yes — Using limited data set, data will be shared through the Data Monitoring and Coordinating Center of the Rare Diseases Clinical Research Network.

No publications or documents are linked to this record.

09

Timeline

Tracking since Sep 25, 2026
Not marked actual or estimatedDates not marked actual or estimated

The record gives a start of Jul 2003, a primary completion of Jun 2028 and a completion of Jun 2028. It does not say whether these dates are actual or estimated.

How these figures are worked out, and which studies are left out of them.

Registered
Dec 27, 2007
First posted
Jan 8, 2008
Start
Jul 2003
Primary completionEst.
Jun 2028
CompletionEst.
Jun 2028
Last update
Jul 10, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Jul 10, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT00588562
Lead sponsor
Mayo Clinic
Responsible party
John Lieske (M.D., Mayo Clinic) — Principal investigator
First posted
Jan 8, 2008
Start date
Jul 2003
Primary completion
Jun 2028 (estimated)
Completion
Jun 2028 (estimated)
Last update
Jul 10, 2026

Study contacts

Julie B. Olson, RN
Contact
rarekidneystones@mayo.edu
507-538-5995
Mayo Clinic Hyperoxaluria Center
Contact
hyperoxaluriacenter@mayo.edu
1-800-270-4637
Dawn S. Milliner, M.D.
principal investigator · Primary Hyperoxaluria Registry - Mayo Clinic, Rochester, MN
David Goldfarb, MD
study director · Cystinuria Registry, New York University, NY
John C Lieske, MD
study director · Dent Disease Registry, Mayo Clinic, Rochester, MN
Vidar Edvardsson, MD
study director · APRT Registry, Landspitali University Hospital, Iceland

Oversight

Data monitoring committee
Yes
View the source record on ClinicalTrials.gov ↗

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