Biobank for patients with rare kidney stone diseases

Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network

This study is collecting samples from patients with rare kidney stone diseases to help researchers learn more about these conditions and find better treatments to protect kidney health.

Quick facts

• Study type: Observational
• Enrollment: 2000 (estimated)
• Sex: All
• Sponsor: Mayo Clinic (Academic / other)
• Locations: 1 site (Rochester, Minnesota)
• Trial ID: NCT02026388 on ClinicalTrials.gov

What this trial studies

This observational study aims to collect and store biological samples from patients diagnosed with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, as well as their family members. The samples will be used for future research to enhance understanding of disease expression and the factors contributing to kidney injury in these conditions. The ultimate goal is to develop new treatments that can help preserve kidney function and reduce complications such as nephrocalcinosis and stone formation.

Who should consider this trial

Good fit: Ideal candidates include individuals diagnosed with primary hyperoxaluria, cystinuria, APRT deficiency, or Dent disease.

Not a fit: Patients without a diagnosis of the specified kidney stone diseases or those with secondary hyperoxaluria may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved treatments for patients suffering from rare kidney stone diseases.

How similar studies have performed: Other studies focusing on biobanking for rare diseases have shown promise in advancing research and treatment options.

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.

Where this trial is running

Rochester, Minnesota

• Mayo Clinic — Rochester, Minnesota, United States (Recruiting)

Study contacts

• Principal investigator: John C Lieske, M.D. — Mayo Clinic
• Study coordinator: Barb M Seide

Conditions Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria; PH; primary hyperoxaluria; hyperoxaluria; primary oxalosis