Heterozygous Individuals for AGXT and Kidney Stones
Not Applicable
Not yet recruiting
- Conditions
- Kidney Stone
- Registration Number
- NCT04430426
- Lead Sponsor
- University of Alabama at Birmingham
- Brief Summary
This study seeks to examine the effects of a heterozygous mutation of the AGXT gene in a stone forming population on endogenous oxalate production. Participants will consume a controlled low-oxalate diet and provide blood and urine samples to measure the amount of oxalate in their bodies. Subjects will then be administered an intravenous (IV) load of glycolate, providing additional blood and urine samples afterwards to measure any increase in oxalate levels.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- NOT_YET_RECRUITING
- Sex
- All
- Target Recruitment
- 4
Inclusion Criteria
- at least 18 years of age
- history of calcium oxalate stones
- heterozygous mutation of the AGXT gene, as evidenced by results from the Invitae Nephrolithiasis Panel
- willingness to comply with a controlled diet for five days
Exclusion Criteria
- pregnant individuals
- individuals who are currently breast feeding
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Primary Outcome Measures
Name Time Method Urinary Oxalate Excretion Baseline through Day 6 Urinary oxalate excretion from urine samples will be measured as mg/day
- Secondary Outcome Measures
Name Time Method