Rare Kidney Stone Consortium Biobank

Brief Title

Rare Kidney Stone Consortium Biobank

Official Title

Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network

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.
    


Study Type

Observational


Primary Outcome

Number of samples stored in tissue bank


Condition

Primary Hyperoxaluria


Study Arms / Comparison Groups

 Primary Hyperoxaluria
Description:  Diagnosis of Primary Hyperoxaluria, or a family member of someone with this diagnosis.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

2000

Start Date

May 2013

Completion Date

June 2025

Primary Completion Date

June 2025

Eligibility 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.
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

John C Lieske, M.D., 507-255-4347, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT02026388

Organization ID

11-005413


Responsible Party

Principal Investigator

Study Sponsor

Mayo Clinic


Study Sponsor

John C Lieske, M.D., Principal Investigator, Mayo Clinic


Verification Date

July 2021