Rare Kidney Stone Consortium Biobank
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorMayo Clinic
About this trial
This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research.
Eligibility criteria
Qualifiers
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
Molecular genetic analysis (DNA testing) confirming mutations known to cause PH type 1, PH type 2, or PH type 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
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
Disqualifiers
Stone formers who do not meet the inclusion criteria for primary hyperoxaluria, cystinuria, Dent disease, or APRT deficiency.
Unwilling or unable to provide consent/assent.
Trial design
Treatments tested in this trial
- Not listed
Trial groups
2,000 Participants
are grouped into 4 trial groupsSponsors and collaborators
Source ClinicalTrials.gov