Clinical trial NCT02026388: Rare Kidney Stone Consortium Biobank
Official title: Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Primary Hyperoxaluria
Dent Disease
APRT Deficiency
Cystinuria
Keywords: 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
Lead sponsor: Mayo Clinic
Sponsor class: OTHER
First posted: 2014-01-03
Enrollment: 2000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

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.

Primary outcomes:
measure: Number of samples stored in tissue bank
timeFrame: 4 years
Secondary outcomes:
Other outcomes:
Locations:
city: Rochester
country: United States
facility: Mayo Clinic
state: Minnesota
Study officials:
affiliation: Mayo Clinic
name: John C Lieske, M.D.
role: PRINCIPAL_INVESTIGATOR
References: