Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Primary Hyperoxaluria
- Sponsor
- Mayo Clinic
- Enrollment
- 2000
- Locations
- 1
- Primary Endpoint
- Number of samples stored in tissue bank
- Status
- Recruiting
- Last Updated
- 9 months ago
Overview
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.
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.
Investigators
John Lieske
Principal Investigator
Mayo Clinic
Eligibility Criteria
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-
- •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
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.
Outcomes
Primary Outcomes
Number of samples stored in tissue bank
Time Frame: 4 years
encourage more research