- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02026388
Rare Kidney Stone Consortium Biobank
July 12, 2023 updated by: John Lieske, Mayo Clinic
Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network
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.
Study Overview
Status
Recruiting
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 Type
Observational
Enrollment (Estimated)
2000
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Barb M Seide
- Phone Number: 507-255-0387
- Email: seide.barbara@mayo.edu
Study Contact Backup
- Name: Leah M Knoke
- Phone Number: 507-293-0467
- Email: knoke.leah@mayo.edu
Study Locations
-
-
Minnesota
-
Rochester, Minnesota, United States, 55905
- Recruiting
- Mayo Clinic
-
Contact:
- Barbara M Seide
- Phone Number: 507-255-0387
- Email: seide.barbara@mayo.edu
-
Principal Investigator:
- John C Lieske, M.D.
-
Contact:
- Leah Knoke
- Phone Number: 507-293-0467
- Email: knoke.leah@mayo.edu
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
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.
Description
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.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
Cohorts and Interventions
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.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Number of samples stored in tissue bank
Time Frame: 4 years
|
encourage more research
|
4 years
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Investigators
- Principal Investigator: John C Lieske, M.D., Mayo Clinic
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
Helpful Links
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start
May 1, 2013
Primary Completion (Estimated)
June 1, 2025
Study Completion (Estimated)
June 1, 2025
Study Registration Dates
First Submitted
December 30, 2013
First Submitted That Met QC Criteria
December 31, 2013
First Posted (Estimated)
January 3, 2014
Study Record Updates
Last Update Posted (Actual)
July 14, 2023
Last Update Submitted That Met QC Criteria
July 12, 2023
Last Verified
July 1, 2023
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Metabolic Diseases
- Kidney Diseases
- Urologic Diseases
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Pathological Conditions, Anatomical
- Carbohydrate Metabolism, Inborn Errors
- Metabolism, Inborn Errors
- Renal Tubular Transport, Inborn Errors
- Renal Aminoacidurias
- Urolithiasis
- Urinary Calculi
- Calculi
- Nephrolithiasis
- Hyperoxaluria
- Female Urogenital Diseases
- Female Urogenital Diseases and Pregnancy Complications
- Urogenital Diseases
- Male Urogenital Diseases
- Cystinuria
- Kidney Calculi
- Hyperoxaluria, Primary
- Dent Disease
Other Study ID Numbers
- 11-005413
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
NO
IPD Plan Description
Biospecimens repository only.
No individual data available to share.
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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