Rare Kidney Stone Consortium Biobank

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

2000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-05-31

Study Completion Date

2030-06-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Rare Kidney Stone Consortium Patient Registry

NCT00588562

Primary Hyperoxaluria Dent Disease Cystinuria +1 more

RECRUITING

Prospective Research Rare Kidney Stones (ProRKS)

NCT02780297

Hyperoxaluria Cystinuria Dent Disease +2 more

RECRUITING

Swiss Kidney Stone Cohort (SKSC)

NCT01990027

Kidney Stone

UNKNOWN

Kidney Disease Biomarkers

NCT00255398

Kidney Disease Glomerular Disease Idiopathic Nephrotic Syndrome +2 more

COMPLETED

National Registry of Rare Kidney Diseases

NCT06065852

Adenine Phosphoribosyltransferase Deficiency AH Amyloidosis AHL Amyloidosis +81 more

RECRUITING

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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

See the medical conditions and disease areas that this research is targeting or investigating.

Primary Hyperoxaluria Dent Disease APRT Deficiency Cystinuria

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Primary Hyperoxaluria

Diagnosis of Primary Hyperoxaluria, or a family member of someone with this diagnosis.

No interventions assigned to this group

Dent Disease

Diagnosis of Dent Disease, or a family member of someone with this diagnosis.

No interventions assigned to this group

Cystinuria

Diagnosis of Cystinuria, or a family member of someone with this diagnosis.

No interventions assigned to this group

APRT deficiency

Diagnosis of APRT Deficiency, or a family member of someone with this diagnosis.

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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

2. Unwilling or unable to provide consent/assent.

Eligible Sex

ALL

Accepts Healthy Volunteers

No