Primary HyperoxaluriaRKSCNCT00588562
Rare Kidney Stone Consortium Patient Registry
An observational study of Primary Hyperoxaluria and Dent Disease, run by Mayo Clinic at 4 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 to 100 years
- Conditions the study is for
- Primary Hyperoxaluria, Dent Disease, Cystinuria
- How many people
- 730 participants
- Where
- 4 sitesin 2 countries
- Study dates
- Jul 2003to Jun 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency.
Who may be able to join
- 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.
Who cannot join
- Individuals who do not have Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency.
Trial locations and contacts
4 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
4 sites in 2 countries
United States3 sites, 3 recruiting
- Recruiting
Cystinuria Registry - New York University
New York, New York, 10010
David Goldfarb, MD, 212-263-0744, David.Goldfarb@va.gov
Frank Modersitzki, MPH, 216-686-7500 ext. 6379, Frank.Modersitzki@nyumc.org
- Recruiting
Dent Disease Registry -Mayo Clinic
Rochester, Minnesota, 55905
Barb M Seide, Study Coord, 800-270-4637, rarekidneystones@mayo.edu
Julie B Olson, RN Coord, 800-270-4637, rarekidneystones@mayo.edu
- Recruiting
Primary Hyperoxaluria Registry - Mayo Clinic
Rochester, Minnesota, 55905
Barb M Seide, Study Coord, 800-270-4637, hyperoxaluriacenter@mayo.edu
Julie B Olson, RN Coord, 800-270-4637, hyperoxaluriacenter@mayo.edu
Iceland1 site, 1 recruiting
- Recruiting
APRT Registry - Landspitali Universtiy Hospital
Reykjavik
Vidar Edvardsson, MD, 354-824-5227, vidare@landspitali.is
Runolfur Palsson, MD, 354-824-5227, runolfur@landspitali.is
About this study
Official title: 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.
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.
- Conditions
- 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
- Medical subject headings
- Hyperoxaluria, Primary, Dent Disease, Cystinuria, Adenine phosphoribosyltransferase deficiency, Hyperoxaluria
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: Yearly
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jan 2008 (estimated)
- Study startJul 2003
- Primary completionJun 2028 (estimated)
- Study completionJun 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Primary HyperoxaluriaStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 730 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Collaborators
- National Institutes of Health (NIH), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Oxalosis and Hyperoxaluria Foundation (OHF)
- Responsible party
- Principal investigator, John Lieske, Mayo Clinic
- Investigators
- Dawn S. Milliner, M.D., Principal investigator, Primary Hyperoxaluria Registry - Mayo Clinic, Rochester, MNDavid Goldfarb, MD, Study director, Cystinuria Registry, New York University, NYJohn C Lieske, MD, Study director, Dent Disease Registry, Mayo Clinic, Rochester, MNVidar Edvardsson, MD, Study director, APRT Registry, Landspitali University Hospital, Iceland
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00588562
- Sponsor's protocol ID
- 11-001702
- Other IDs
- 1U54DK083908-01
- Acronym
- RKSC
- Status last verified
- Jul 2026
- First submitted
- 27 Dec 2007
- Last updated
- 10 Jul 2026
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- Yes: Using limited data set, data will be shared through the Data Monitoring and Coordinating Center of the Rare Diseases Clinical Research Network.
Study at a glance
From the registry record, last updated by the sponsor on 10 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases
- ClinicalTrials.gov ID
- NCT00588562
- Acronym / sponsor ID
- RKSC / 11-001702
- Conditions
- Primary Hyperoxaluria, Dent Disease, Cystinuria, APRT Deficiency
- Keywords
- PH, PH1, PH2, PH3, PHI, PHII, PHIII, PH NonI-NonII
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 730 participants (estimated)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Collaborators
- National Institutes of Health (NIH), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Oxalosis and Hyperoxaluria Foundation (OHF)
- Study start
- Jul 2003
- Primary completion
- Jun 2028 (estimated)
- Study completion
- Jun 2028 (estimated)
- First posted
- 8 Jan 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 0 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency.
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (1 listed)
- Individuals who do not have Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Establish and expand registries and collaborate with patient organizations for the rapid dissemination of knowledge
Time frame: Yearly
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.
1 secondary outcome
Improved understanding of symptoms and progression of four major diseases of hereditary nephrolithiasis.
Time frame: Yearly
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Jul 2026.
- Individual participant dataSharing planned: Yes. Using limited data set, data will be shared through the Data Monitoring and Coordinating Center of the Rare Diseases Clinical Research Network.
Related trials for Primary Hyperoxaluria
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Enrolling by invitationObservational study
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Active, not recruitingPhase 3
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
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
4 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Hyperoxaluria and Dent Disease, run by Mayo Clinic at 4 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 10 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States, Iceland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Julie B. Olson, RN (507-538-5995, rarekidneystones@mayo.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Establish and expand registries and collaborate with patient organizations for the rapid dissemination of knowledge (time frame: Yearly). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Jul 2026.