Rare Kidney Stone Consortium Biobank
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02026388|
Recruitment Status : Recruiting
First Posted : January 3, 2014
Last Update Posted : July 13, 2022
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|Condition or disease|
|Primary Hyperoxaluria Dent Disease APRT Deficiency Cystinuria|
|Study Type :||Observational|
|Estimated Enrollment :||2000 participants|
|Official Title:||Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network|
|Study Start Date :||May 2013|
|Estimated Primary Completion Date :||June 2025|
|Estimated Study Completion Date :||June 2025|
Diagnosis of Primary Hyperoxaluria, or a family member of someone with this diagnosis.
Diagnosis of Dent Disease, or a family member of someone with this diagnosis.
Diagnosis of Cystinuria, or a family member of someone with this diagnosis.
Diagnosis of APRT Deficiency, or a family member of someone with this diagnosis.
- Number of samples stored in tissue bank [ Time Frame: 4 years ]
Biospecimen Retention: Samples With DNA
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|Ages Eligible for Study:||Child, Adult, Older Adult|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Non-Probability Sample|
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
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02026388
|Contact: Alicia M Meekemail@example.com|
|Contact: Barbara M Seidefirstname.lastname@example.org|
|United States, Minnesota|
|Rochester, Minnesota, United States, 55905|
|Contact: Alicia M Meek 507-255-4347 email@example.com|
|Contact: Barbara M Seide 507-255-0387 firstname.lastname@example.org|
|Principal Investigator: John C Lieske, M.D.|
|Principal Investigator:||John C Lieske, M.D.||Mayo Clinic|
|Responsible Party:||John Lieske, Principal Investigator, Mayo Clinic|
|Other Study ID Numbers:||
|First Posted:||January 3, 2014 Key Record Dates|
|Last Update Posted:||July 13, 2022|
|Last Verified:||July 2022|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||No|
|Plan Description:||Biospecimens repository only. No individual data available to share.|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Primary Hyperoxaluria Type 1
Primary Hyperoxaluria Type 2
Primary Hyperoxaluria Type 3
Pathological Conditions, Anatomical
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Renal Tubular Transport, Inborn Errors
Genetic Diseases, X-Linked