Registry for patients with rare kidney stone disorders

Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases

Observational Mayo Clinic · NCT00588562

This study is collecting health information from people with rare kidney stone disorders to better understand their symptoms and improve care for patients like them.

Quick facts

Study typeObservational
Enrollment730 (estimated)
Ages0 Years to 100 Years
SexAll
SponsorMayo Clinic Academic / other
Locations4 sites (Rochester, Minnesota and 3 other locations)
Trial IDNCT00588562 on ClinicalTrials.gov

What this trial studies

This observational study aims to collect medical information from patients diagnosed with primary hyperoxaluria, Dent disease, cystinuria, and APRT deficiency to create a comprehensive registry. The registry will facilitate the comparison of symptoms and disease progression among patients, enhancing the understanding of these rare conditions. Data will be securely entered by healthcare providers and will include details such as age at symptom onset, laboratory values, and kidney function over time. The goal is to improve patient care through better insights gained from the collected data.

Who should consider this trial

Good fit: Ideal candidates for this registry are individuals with a confirmed diagnosis of primary hyperoxaluria, Dent disease, cystinuria, or APRT deficiency.

Not a fit: Patients without a diagnosis of primary hyperoxaluria, Dent disease, cystinuria, or APRT deficiency will not benefit from this registry.

Why it matters

Potential benefit: If successful, this registry could lead to improved understanding and management of rare kidney stone disorders, ultimately enhancing patient care.

How similar studies have performed: Other studies involving patient registries for rare diseases have shown success in improving understanding and treatment options, indicating that this approach is promising.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Individuals must have a definitive diagnosis of Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency.
* Individuals have a family history of a sibling with Primary Hyperoxaluria,Dent Disease, Cystinuria or APRT Deficiency.

Exclusion Criteria:

* Individuals who do not have Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency.

Where this trial is running

Rochester, Minnesota and 3 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 Primary HyperoxaluriaDent DiseaseCystinuriaAPRT DeficiencyPHPH1PH2PH3
Last reviewed 2026-06-13 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.