RECRUITING

Rare Kidney Stone Consortium Biobank

Conditions

Primary Hyperoxaluria Dent Disease APRT Deficiency Cystinuria PH hyperoxaluria primary oxalosis Primary Hyperoxaluria Type 1 Primary Hyperoxaluria Type 2 Primary Hyperoxaluria Type 3 Dent Dents Dent 1 Dent 2 APRT Biobank

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network

Quick Facts

Study Start:2013-05

Study Completion:2025-06

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT02026388

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.

Ages Eligible for Study:Not specified

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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	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.

Inclusion Criteria

Exclusion 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

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

Study Contact

Barb M Seide

CONTACT

507-255-0387

seide.barbara@mayo.edu

Leah M Knoke

CONTACT

507-293-0467

knoke.leah@mayo.edu

Principal Investigator

John C Lieske, M.D.

PRINCIPAL_INVESTIGATOR

Mayo Clinic

Study Locations (Sites)

Mayo Clinic

Rochester, Minnesota, 55905

United States

Collaborators and Investigators

Sponsor: Mayo Clinic

John C Lieske, M.D., PRINCIPAL_INVESTIGATOR, Mayo Clinic

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 Registration Dates

Study Start Date2013-05

Study Completion Date2025-06

Study Record Updates

Study Start Date2013-05

Study Completion Date2025-06

Terms related to this study

Keywords Provided by Researchers

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
Cystinuria
APRT
APRT deficiency
Biobank

Additional Relevant MeSH Terms

Primary Hyperoxaluria
Dent Disease
APRT Deficiency
Cystinuria