Who may be eligible for the Rare Kidney Stone Consortium Biobank trial?

Inclusion Criteria: * Diagnosis of primary hyperoxaluria (PH) meeting one or more of the following criteria: 1. 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 2. Molecular genetic analysis (DNA testing) confirming mutations known to cause PH type 1, PH type 2, or PH type 3 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 4. 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 5. 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. * Diagnosis of Dent disease meeting one or more of the following criteria: 1. Identified mutation of the gene that encodes for chloride exchange transporter 5 (CLCN5) 2. Low molecular weight proteinuria and hypercalciuria 3. Low molecular weight proteinuria and nephrocalcinosis * Diagnosis of APRT disease meeting one or more of the following criteria: 1. Suspected dihydroxyadeninuria and absent APRT enzyme activity measured in red blood cells (RBCs). 2. Homozygosity, or compound heterozygosity, for known disease-causing APRT mutations. 3. Passage of dihydroxyadenine stones (confirmed with stone analysis). * Diagnosis of Cystinuria meeting one or more of the following criteria: 1. Stone analysis demonstrating that the stone contains cystine 2. 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 Exclusion Criteria: 1. Stone formers who do not meet the inclusion criteria for primary hyperoxaluria, cystinuria, Dent disease, or APRT deficiency. 2. Unwilling or unable to provide consent/assent.

ClinicalTrials.gov record NCT02026388

Rare Kidney Stone Consortium Biobank

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

SexAll

LocationUnited States

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational biobank collects and stores biological samples and clinical information from people with primary hyperoxaluria, Dent disease, APRT deficiency, or cystinuria, and from their family members. It is a prospective registry: samples and data are kept for use in future research. The study does not test a treatment.

What it is studying. Whether and how stored biological samples and linked clinical information from people with these four rare kidney stone diseases and their relatives can support research into disease expression and factors related to kidney injury.

What the researchers hope to learn. To advance understanding of disease expression and the factors associated with kidney injury in primary hyperoxaluria, cystinuria, APRT deficiency, and Dent disease, with the overall goal of developing new treatments to preserve kidney function and reduce nephrocalcinosis and stone formation.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

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.
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

Exclusion criteria

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.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants provide biologic samples that will be stored in a biobank for future research; family members may provide samples as well. The registry record does not specify which exact sample types or other procedures will be collected. Participants previously enrolled and consented under the cited Mayo protocol may be included using that prior consent.

How the study is structured. A prospective observational registry (cohort) that gathers and stores biological samples and clinical data over time. Participants provide samples and information; no experimental treatments are assigned.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

More on primary hyperoxaluria

Clinical trials13 trials listed for primary hyperoxaluriaEvery trial the registry lists for primary hyperoxaluria, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in primary hyperoxaluria researchLatest monthly update: September 2026. Includes: Early oxalate change. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start: May 2013
Primary completion: June 2030 (estimated)
Study completion: June 2030 (estimated)
Target enrollment: 2000 participants (estimated)
Last updated on registry: Jul 22, 2026
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: Mayo Clinic
Principal investigator: John Lieske, Principal Investigator
Mayo Clinic

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Barb M Seide 📞 507-255-0387 ✉ seide.barbara@mayo.edu
Leah M Knoke 📞 507-293-0467 ✉ knoke.leah@mayo.edu

Participating sites (1)

Mayo ClinicRecruiting
Rochester, Minnesota, 55905 · United States
- Barbara M Seide · 507-255-0387 · seide.barbara@mayo.edu
- Leah Knoke · 507-293-0467 · knoke.leah@mayo.edu
- John C Lieske, M.D.

Terms used on this page · explanations by MedicalUpdates.ai

biopsy: Removal of a small piece of tissue so it can be examined under a microscope. 'Biopsy-proven' or 'histologically confirmed' means the diagnosis was confirmed by examining tissue under a microscope.
inclusion criteria: The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
assent: A child's or dependent adult's agreement to take part, given alongside the formal consent of a parent or legal representative.
Exclusion Criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
biobank: A collection of biological samples, such as blood or tissue, stored with medical information so that researchers can study them later.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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