Understanding hereditary kidney stone diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Mayo Clinic Hyperoxaluria Center
  Rochester, Minnesota, United States Recruiting
• University of Alabama @ Birmingham
  Birmingham, Alabama, United States Not yet recruiting
• Mayo Clinic Jacksonville
  Jacksonville, Florida, United States Not yet recruiting
• Children's Memorial Hospital
  Chicago, Illinois, United States Not yet recruiting
• Children's Hospital, Harvard Medical School
  Boston, Massachusetts, United States Not yet recruiting
• New York University
  New York, New York, United States Not yet recruiting

Study contacts

• Principal investigator: John Lieske, MD — Mayo Clinic
• Study coordinator: Barb Seide
• Email: RareKidneyStones@mayo.edu
• Phone: 800-270-4637

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• National Registry for Rare Kidney Diseases

  This study is collecting health information from people with rare kidney diseases to help improve treatments and create better care guidelines.

  Recruiting UK Kidney Association · Bristol, South West · NCT06065852

• Biobank for patients with rare kidney stone diseases

  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.

  Recruiting Mayo Clinic · Rochester, Minnesota · NCT02026388

• Registry for patients with rare kidney stone disorders

  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.

  Recruiting at 4 sites Mayo Clinic · Rochester, Minnesota and 3 other locations · NCT00588562

• Registry for patients with rare diseases

  This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.

  Recruiting Sanford Health · Sioux Falls, South Dakota · NCT01793168

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.