Rare Kidney Stone Consortium Biobank

Primary Hyperoxaluria Clinical Trial

Official title:

Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02026388
• Other study ID #: 11-005413
• Status: Recruiting
• Start date: May 2013
• Est. completion date: June 2025

Study information

• Verified date: July 2023
• Source: Mayo Clinic
• Contact: Barb M Seide
• Phone: 507-255-0387
• Email: seide.barbara[@]mayo.edu
• Is FDA regulated: No
• Study type: Observational

Clinical 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 2000
• Est. completion date: June 2025
• Est. primary completion date: June 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• APRT Deficiency
• Cystinuria
• Dent Disease
• Hyperoxaluria, Primary
• Kidney Calculi
• Primary Hyperoxaluria

Locations

Country	Name	City	State
United States	Mayo Clinic	Rochester	Minnesota

Sponsors (1)

Lead Sponsor	Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of samples stored in tissue bank	encourage more research	4 years

External Links

•   Mayo Clinic Clinical Trials
•   Rare Kidney Stone Consortium