Rare Disease Trial, Recruiting
Who may be able to join
AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI
Who might be able to join this trial:
- You have been diagnosed with primary hyperoxaluria (PH), confirmed by at least one of the following: a liver biopsy showing abnormal enzyme activity for PH type 1 or type 2; DNA testing showing gene changes known to cause PH type 1, 2, or 3; urine tests showing very high oxalate levels without another known cause; or, if you are in kidney failure, high oxalate levels in the blood plus a kidney biopsy or signs of oxalate buildup throughout the body.
- You have been diagnosed with Dent disease, confirmed by at least one of: a specific gene change in the CLCN5 gene; certain abnormal protein and calcium levels in the urine; or abnormal protein in the urine along with calcium deposits in the kidneys.
- You have been diagnosed with APRT deficiency (also called dihydroxyadeninuria), confirmed by at least one of: suspected condition with no APRT enzyme activity found in red blood cells; specific gene changes known to cause APRT deficiency; or kidney stone analysis confirming a certain type of stone.
- You have been diagnosed with cystinuria, confirmed by at least one of: a kidney stone analysis showing the stone contained cystine; or urine tests showing very high cystine levels.
- You are a blood relative of someone who has been confirmed to have primary hyperoxaluria, Dent disease, APRT deficiency, or cystinuria.
- You previously took part in a related earlier study at Mayo Clinic (confirm with trial site).
Who may not be able to join:
- You form kidney stones but do not meet the specific diagnosis criteria listed above for any of the four conditions covered in this trial.
- You are unwilling or unable to give your agreement (consent) to take part in the study.
Important: Always verify eligibility with the trial site directly before applying.
Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.
Contact this trial
Principal Investigator: John C Lieske, M.D., Mayo Clinic
Phone: 507-255-0387
Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.
GP referral letter
Print a one-page summary to share with your doctor.
Trial details
Where this trial is recruiting
Primary endpoints
Number of samples stored in tissue bank
Can't join this trial?
Data last synced from ClinicalTrials.gov: 28 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.