Rare Kidney Stone Consortium Biobank

Sponsor

Mayo Clinic (Other)

Overall Status

Recruiting

CT.gov ID

NCT02026388

Collaborator

(none)

2,000

Enrollment

Location

145

Duration (Months)

13.8

Patients Per Site Per Month

Study Details

Study Description

Brief 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.

Condition or Disease	Intervention/Treatment	Phase
Primary Hyperoxaluria Dent Disease APRT Deficiency Cystinuria

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

Study Type:

Observational

Anticipated Enrollment :

2000 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network

Study Start Date :

May 1, 2013

Anticipated Primary Completion Date :

Jun 1, 2025

Anticipated Study Completion Date :

Jun 1, 2025

Arms and Interventions

Arm	Intervention/Treatment
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.

Outcome Measures

Primary Outcome Measures

Number of samples stored in tissue bank [4 years]

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.