HyperoxaluriaProRKSNCT02780297
Prospective Research Rare Kidney Stones (ProRKS)
An observational study of Hyperoxaluria and Cystinuria, run by Mayo Clinic at 11 sites in 4 countries.
Trial summary
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). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hyperoxaluria, Cystinuria, Dent Disease
- How many people
- 220 participants
- Where
- 11 sitesin 4 countries
- Study dates
- May 2016to Jul 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency, Lowe syndrome, Dent Disease Carriers and Enteric Hyperoxaluria
Who may be able to join
- Diagnosis of primary hyperoxaluria
- Diagnosis of enteric hyperoxaluria
- Diagnosis of Dent Disease
- Diagnosis of Cystinuria
- Diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)
- Diagnosis of Lowe Syndrome
- Diagnosis of Dent Disease Carrier
Who cannot join
- Prior renal failure
- History of liver and/or kidney transplant.
Trial locations and contacts
11 sites in 4 countries. Contact the study team or a site near you to ask about taking part.
11 sites in 4 countries
United States8 sites, 8 recruiting
- Not yet recruiting
University of Alabama @ Birmingham
Birmingham, Alabama, 35294
Lisa Harvey, 205-996-2613, lharvey@uab.edu
Dean Assimos, MD
- Not yet recruiting
Children's Hospital, Harvard Medical School
Boston, Massachusetts, 02115
Leslie Spaneas, 617-355-6129, leslie.spaneas@childrens.harvard.edu
Michael Somers, MD, michael.somers@childrens.harvard.edu
- Not yet recruiting
Children's Memorial Hospital
Chicago, Illinois, 60614
Heather Price, MS, hprice@childrensmemorial.org
Craig Langman, M.D.
- Not yet recruiting
Cincinnati Children's Hosptial Medical Center
Cincinnati, Ohio, 45229
Prasad Devarajan, MD, 515-636-4200, prasad.devarajan@cchmc.org
Prasad Decarajan, MD
- Not yet recruiting
Mayo Clinic Jacksonville
Jacksonville, Florida, 32224
Arta Palaj, 904-953-3071, palaj.arta@mayo.edu
Ivan Porter, MD, porter.ivan@mayo.edu
- Not yet recruiting
New York University
New York, New York, 10010
Frank Modersitzki, MPH, 216-686-7500 ext. 6379, Frank.Modersitzki@nyumc.org
Lada Beara-Lasic, MD, lada.bearalasic@nymc.org
- Not yet recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Taylor Moatz, 267-425-3937, moatzt@chop.edu
Lawrence Copelovitch, MD
- Recruiting
Mayo Clinic Hyperoxaluria Center
Rochester, Minnesota, 55905
Barb Seide, 800-270-4637, hyperoxaluriacenter@mayo.edu
Julie B Olson, RN, 800-270-4637, hyperoxaluriacenter@mayo.edu
Canada1 site, 1 recruiting
- Not yet recruiting
Hosptial of Sick Children
Toronto, Ontario, M5G 1X8
Lisa Robinson, MD, 416-813-5082, lisa.robinson@sickkids.ca
Elizabeth Harvey, MD, 416-813-5082, Elizabeth.harvey@sickkids.ca
Iceland1 site, 1 recruiting
- Not yet recruiting
Landspitali Universtiy Hospital
Reykjavik
Inger Agustsdottir, RN, 354-824-5227, ingeragu@landspitali.is
Vidar Edvardsson, MD
Israel1 site, 1 recruiting
- Not yet recruiting
Shaare Zedek Medica Center
Jerusalem
Yaacov Frishberg, MD, yaacovf@ekmd.huji.ac.il
Yaacov Frishberg, MD
About this study
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.
Read the 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.
- Conditions
- Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome, Adenine Phosphoribosyltransferase Deficiency
- Keywords
- primary hyperoxaluria, Dent Disease, enteric hyperoxaluria, cystinuria, Lowe Syndrome, Adenine phosphoribosyltransferase deficiency, PH, APRTd, APRT, hyperoxaluria, oxalate, oxalosis, PH type 1, PH type 2, PH type 3, Dents, Dent, Dent 1, Dent 2, APRT deficiency
- Medical subject headings
- Hyperoxaluria, Cystinuria, Dent Disease, Oculocerebrorenal Syndrome, Adenine phosphoribosyltransferase deficiency, Hyperoxaluria, Primary
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 | 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 being measured
The primary outcome is the main question the study is designed to answer.
inflammatory blood and urinary biomarkers
Statistically significant changes (increase or decrease) in inflammatory urinary biomarkers compared to reference values
Measured: Annually for 5 years
Secondary outcomes (1)
Longitudinal changes in eGFR
changes in eGFR during the 5 years
Measured: Annually for 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 May 2016 (estimated)
- Study startMay 2016
- Primary completionJul 2028 (estimated)
- Study completionJul 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for 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
- Prospective
- Enrolment
- 220 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, John Lieske, Mayo Clinic
- Investigators
- John Lieske, MD, Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02780297
- Sponsor's protocol ID
- 16-000494
- Acronym
- ProRKS
- Status last verified
- Aug 2026
- First submitted
- 11 May 2016
- Last updated
- 7 Aug 2026
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Research Rare Kidney Stones (ProRKS)
- ClinicalTrials.gov ID
- NCT02780297
- Acronym / sponsor ID
- ProRKS / 16-000494
- Conditions
- Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome, Adenine Phosphoribosyltransferase Deficiency
- Keywords
- primary hyperoxaluria, Dent Disease, enteric hyperoxaluria, cystinuria, Lowe Syndrome, Adenine phosphoribosyltransferase deficiency, PH, APRTd
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 220 participants (estimated)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Study start
- May 2016
- Primary completion
- Jul 2028 (estimated)
- Study completion
- Jul 2028 (estimated)
- First posted
- 23 May 2016 (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 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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 7
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency, Lowe syndrome, Dent Disease Carriers and Enteric Hyperoxaluria
Key inclusion criteria (7 listed)
- Diagnosis of primary hyperoxaluria
- Diagnosis of enteric hyperoxaluria
- Diagnosis of Dent Disease
- Diagnosis of Cystinuria
- Diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)
Key exclusion criteria (2 listed)
- Prior renal failure
- History of liver and/or kidney transplant.
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
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
1 secondary outcome
Longitudinal changes in eGFR
Time frame: Annually for 5 years
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 7 Aug 2026.
- Mayo Clinic Clinical TrialsLink provided by the sponsor.
- Individual participant dataSharing planned: No
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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.
John Lieske, MD principal investigator
Mayo Clinic
11 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hyperoxaluria and Cystinuria, run by Mayo Clinic at 11 sites in 4 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 7 inclusion and 2 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 7 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in United States, Canada, Iceland, Israel. 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 Barb Seide (800-270-4637, RareKidneyStones@mayo.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
inflammatory blood and urinary biomarkers (time frame: Annually for 5 years). 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 7 Aug 2026.