Primary HyperoxaluriaNCT02026388
Rare Kidney Stone Consortium Biobank
An observational study of Primary Hyperoxaluria and Dent Disease, run by Mayo Clinic at 1 site in United States.
Trial summary
This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Primary Hyperoxaluria, Dent Disease, APRT Deficiency
- How many people
- 2,000 participants
- Where
- 1 siteUnited States
- Study dates
- May 2013to Jun 2030
- 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 a confirmed Diagnosis of Primary Hyperoxaluria, Dent Disease, APRT deficiency or Cystinuria. Family members of individuals with these four diseases.
Who may be able to join
- Diagnosis of primary hyperoxaluria (PH) meeting one or more of the following criteria:
- Liver biopsy documenting alanine-glyoxylate aminotransferase (AGT) activity below the normal reference range confirming PH type 1 OR Liver biopsy documenting glyoxylate reductase/hydroxypyruvate reductase (GR/HPR) activity below the normal reference range confirming PH type 2
- Molecular genetic analysis (DNA testing) confirming mutations known to cause PH type 1, PH type 2, or PH type 3
- Urinary oxalate excretion of greater than 0.8 mmol/1.73 m2/day (>70 mg/1.73 m2/day) in the absence of a identifiable causes of secondary hyperoxaluria, including gastrointestinal disease known to cause enteric hyperoxaluria
- A patient in end stage kidney failure, in whom neither a liver biopsy nor mutational analysis are available must have: (a) A plasma oxalate concentration of greater than 60 umol/L and a kidney biopsy confirming extensive oxalate deposits OR (b) Evidence of systemic oxalosis
- Participants in the previous protocol "Tissue Bank of Urine, Blood, and Tissue Samples Collected from the Patients with Primary Hyperoxaluria" 'Mayo IRB #' #80-04. They have already consented to bank their samples and that consent will serve to enroll them in this study.
Show all 18Show fewer
- Diagnosis of Dent disease meeting one or more of the following criteria:
- Identified mutation of the gene that encodes for chloride exchange transporter 5 (CLCN5)
- Low molecular weight proteinuria and hypercalciuria
- Low molecular weight proteinuria and nephrocalcinosis
- Diagnosis of APRT disease meeting one or more of the following criteria:
- Suspected dihydroxyadeninuria and absent APRT enzyme activity measured in red blood cells (RBCs).
- Homozygosity, or compound heterozygosity, for known disease-causing APRT mutations.
- Passage of dihydroxyadenine stones (confirmed with stone analysis).
- Diagnosis of Cystinuria meeting one or more of the following criteria:
- Stone analysis demonstrating that the stone contains cystine
- Increased urinary cystine excretion (>250 mg/gm creatinine)
- Relative of someone with confirmed primary hyperoxaluria, Dent disease, APRT deficiency (also known as dihydroxyadeninuria), or cystinuria
Who cannot join
- Stone formers who do not meet the inclusion criteria for primary hyperoxaluria, cystinuria, Dent disease, or APRT deficiency.
- Unwilling or unable to provide consent/assent.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Mayo Clinic
Rochester, Minnesota, 55905
Barbara M Seide, 507-255-0387, seide.barbara@mayo.edu
Leah Knoke, 507-293-0467, knoke.leah@mayo.edu
About this study
Official title: Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network
This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research.
Read the detailed description
Biologic samples will be stored in the biobank from well characterized patients with primary hyperoxaluria, cystinuria, APRT deficiency, and Dent disease, and from their family members, for use in future research. This will help to advance our understanding of disease expression and the factors associated with kidney injury in these four diseases with the overall goal of developing new treatments to preserve kidney function and reduce nephrocalcinosis and stone formation.
- Conditions
- Primary Hyperoxaluria, Dent Disease, APRT Deficiency, Cystinuria
- Keywords
- PH, primary hyperoxaluria, hyperoxaluria, primary oxalosis, Primary Hyperoxaluria Type 1, Primary Hyperoxaluria Type 2, Primary Hyperoxaluria Type 3, Dent, Dents, Dent Disease, Dent 1, Dent 2, Cystinuria, APRT, APRT deficiency, Biobank
- Medical subject headings
- Hyperoxaluria, Primary, Dent Disease, Adenine phosphoribosyltransferase deficiency, Cystinuria, Hyperoxaluria, Primary hyperoxaluria type 1, Primary hyperoxaluria type 2
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 | Diagnosis of Primary Hyperoxaluria, or a family member of someone with this diagnosis. | |
| Dent Disease | Diagnosis of Dent Disease, or a family member of someone with this diagnosis. | |
| Cystinuria | Diagnosis of Cystinuria, or a family member of someone with this diagnosis. | |
| APRT deficiency | Diagnosis of APRT Deficiency, or a family member of someone with this diagnosis. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of samples stored in tissue bank
encourage more research
Measured: 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Jan 2014 (estimated)
- Study startMay 2013
- Primary completionJun 2030 (estimated)
- Study completionJun 2030 (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
- Prospective
- Enrolment
- 2,000 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 C Lieske, M.D., Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02026388
- Sponsor's protocol ID
- 11-005413
- Status last verified
- Jul 2026
- First submitted
- 30 Dec 2013
- Last updated
- 22 Jul 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Biospecimens repository only. No individual data available to share.
Study at a glance
From the registry record, last updated by the sponsor on 22 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network
- ClinicalTrials.gov ID
- NCT02026388
- Acronym / sponsor ID
- 11-005413
- Conditions
- Primary Hyperoxaluria, Dent Disease, APRT Deficiency, Cystinuria
- Keywords
- PH, primary hyperoxaluria, hyperoxaluria, primary oxalosis, Primary Hyperoxaluria Type 1, Primary Hyperoxaluria Type 2, Primary Hyperoxaluria Type 3, Dent
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Study start
- May 2013
- Primary completion
- Jun 2030 (estimated)
- Study completion
- Jun 2030 (estimated)
- First posted
- 3 Jan 2014 (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.
This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research.
Detailed description
Biologic samples will be stored in the biobank from well characterized patients with primary hyperoxaluria, cystinuria, APRT deficiency, and Dent disease, and from their family members, for use in future research. This will help to advance our understanding of disease expression and the factors associated with kidney injury in these four diseases with the overall goal of developing new treatments to preserve kidney function and reduce nephrocalcinosis and stone formation.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Primary Hyperoxaluria | – | –Diagnosis of Primary Hyperoxaluria, or a family member of someone with this diagnosis. |
| Dent Disease | – | –Diagnosis of Dent Disease, or a family member of someone with this diagnosis. |
| Cystinuria | – | –Diagnosis of Cystinuria, or a family member of someone with this diagnosis. |
| APRT deficiency | – | –Diagnosis of APRT Deficiency, or a family member of someone with this diagnosis. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with a confirmed Diagnosis of Primary Hyperoxaluria, Dent Disease, APRT deficiency or Cystinuria. Family members of individuals with these four diseases.
Key inclusion criteria (18 listed)
- Diagnosis of primary hyperoxaluria (PH) meeting one or more of the following criteria:
- Diagnosis of Dent disease meeting one or more of the following criteria:
- Diagnosis of APRT disease meeting one or more of the following criteria:
- Diagnosis of Cystinuria meeting one or more of the following criteria:
- Relative of someone with confirmed primary hyperoxaluria, Dent disease, APRT deficiency (also known as dihydroxyadeninuria), or cystinuria
Key exclusion criteria (2 listed)
- Stone formers who do not meet the inclusion criteria for primary hyperoxaluria, cystinuria, Dent disease, or APRT deficiency.
- Unwilling or unable to provide consent/assent.
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
Number of samples stored in tissue bank
Time frame: 4 years
encourage more research
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 22 Jul 2026.
- Rare Kidney Stone ConsortiumLink provided by the sponsor.
- Individual participant dataSharing planned: No. Biospecimens repository only. No individual data available to share.
Related trials for Primary Hyperoxaluria
RecruitingPhase 1/2
Phase 1/2 Study of ABO-101 in Primary Hyperoxaluria Type 1 (redePHine)
Primary Hyperoxaluria Type 1 (PH1)
RecruitingPhase 2
A Phase 2 Study to Investigate the Efficacy, Safety and Tolerability of Remibrutinib (LOU064) in Adult Patients With Papulopustular Rosacea (PPR)
Papulopustular Rosacea
Enrolling by invitationObservational study
Follow-up of Pediatric Patients Affected by Primary Hyperoxaluria Type 1 (PH1) Treated With Lumasiran
Hyperoxaluria, Primary
RecruitingPhase 2
Study of YOLT-203 in Children and Adults With Primary Hyperoxaluria Type 1 (PH1)
Primary Hyperoxaluria Type 1, PH1
Active, not recruitingPhase 3
Long Term Extension Study in Patients With Primary Hyperoxaluria
Primary Hyperoxaluria Type 1 (PH1), Primary Hyperoxaluria Type 2 (PH2)
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 C Lieske, M.D. principal investigator
Mayo Clinic
1 site in 1 country: 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 1 site in United States.
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 18 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 22 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 1 site in United States. 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 M Seide (507-255-0387, seide.barbara@mayo.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of samples stored in tissue bank (time frame: 4 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 22 Jul 2026.