Understanding hereditary kidney stone diseases

Prospective Research Rare Kidney Stones (ProRKS)

Observational Mayo Clinic · NCT02780297

This study is trying to learn more about hereditary kidney stone diseases and how they affect kidney health over time by looking at patients' blood and urine samples.

Quick facts

Study typeObservational
Enrollment220 (estimated)
SexAll
SponsorMayo Clinic Academic / other
Locations11 sites (Birmingham, Alabama and 10 other locations)
Trial IDNCT02780297 on ClinicalTrials.gov

What this trial studies

This observational study aims to investigate the natural history of hereditary forms of kidney stones and chronic kidney disease, including conditions like primary hyperoxaluria, cystinuria, Dent disease, and adenine phosphoribosyltransferase deficiency. Researchers will collect longitudinal data on patients, measuring blood and urinary markers of inflammation to explore their relationship with disease progression. By cross-comparing these disorders, the study seeks to identify factors that influence disease severity and kidney injury, ultimately enhancing understanding of renal dysfunction mechanisms.

Who should consider this trial

Good fit: Ideal candidates include individuals diagnosed with primary hyperoxaluria, enteric hyperoxaluria, Dent disease, cystinuria, adenine phosphoribosyltransferase deficiency, or Lowe Syndrome.

Not a fit: Patients with prior renal failure or those who have undergone liver and/or kidney transplants may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved management and treatment strategies for patients with hereditary kidney stone diseases.

How similar studies have performed: Other studies have shown success in understanding kidney stone diseases, but this specific approach focusing on hereditary forms is relatively novel.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

1. Diagnosis of primary hyperoxaluria
2. Diagnosis of enteric hyperoxaluria
3. Diagnosis of Dent Disease
4. Diagnosis of Cystinuria
5. Diagnosis of adenine phosphoribosyltransferase deficiency (APRTd)
6. Diagnosis of Lowe Syndrome
7. Diagnosis of Dent Disease Carrier

Exclusion Criteria:

1. Prior renal failure
2. History of liver and/or kidney transplant.

Where this trial is running

Birmingham, Alabama and 10 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions HyperoxaluriaCystinuriaDent DiseaseLowe SyndromeAdenine Phosphoribosyltransferase Deficiencyprimary hyperoxaluriaenteric hyperoxaluriacystinuria
Last reviewed 2026-06-09 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.