We're building a better ClinicalTrials.gov. Check it out and tell us what you think!
Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

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
Sponsor:
Information provided by (Responsible Party):
John Lieske, Mayo Clinic

Study Description
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
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
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
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Layout table for study information
Study Type : Observational
Estimated 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 2013
Estimated Primary Completion Date : June 2025
Estimated Study Completion Date : June 2025

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Kidney Stones

Groups and Cohorts
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Group/Cohort
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
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :
  1. Number of samples stored in tissue bank [ Time Frame: 4 years ]

Biospecimen Retention:   Samples With DNA
Urine, blood and tissue samples

Eligibility Criteria
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with a confirmed Diagnosis of Primary Hyperoxaluria, Dent Disease, APRT deficiency or Cystinuria. Family members of individuals with these four diseases.
Criteria

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.
Contacts and Locations
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

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


Contacts
Layout table for location contacts
Contact: Alicia M Meek 507-255-4347 meek.alicia@mayo.edu
Contact: Barbara M Seide 507-255-0387 seide.barbara@mayo.edu

Locations
Layout table for location information
United States, Minnesota
Mayo Clinic Recruiting
Rochester, Minnesota, United States, 55905
Contact: Alicia M Meek    507-255-4347    meek.alicia@mayo.edu   
Contact: Barbara M Seide    507-255-0387    seide.barbara@mayo.edu   
Principal Investigator: John C Lieske, M.D.         
Sponsors and Collaborators
Mayo Clinic
Investigators
Layout table for investigator information
Principal Investigator: John C Lieske, M.D. Mayo Clinic
More Information
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Additional Information:

Layout table for additonal information
Responsible Party: John Lieske, Principal Investigator, Mayo Clinic
ClinicalTrials.gov Identifier: NCT02026388    
Other Study ID Numbers: 11-005413
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.

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by John Lieske, Mayo Clinic:
Cystinuria
PH
primary hyperoxaluria
hyperoxaluria
primary oxalosis
Primary Hyperoxaluria Type 1
Primary Hyperoxaluria Type 2
Primary Hyperoxaluria Type 3
 Dent
Dents
Dent Disease
Dent 1
Dent 2
APRT
APRT deficiency
Biobank
Additional relevant MeSH terms:
Layout table for MeSH terms
Cystinuria
Kidney Calculi
Hyperoxaluria, Primary
Dent Disease
Nephrolithiasis
Kidney Diseases
Urologic Diseases
Urolithiasis
Urinary Calculi
Calculi
 Pathological Conditions, Anatomical
Hyperoxaluria
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Renal Aminoacidurias
Renal Tubular Transport, Inborn Errors
Genetic Diseases, X-Linked