Heterozygous Individuals for AGXT and Kidney Stones

Sponsor

University of Alabama at Birmingham (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT04430426

Collaborator

(none)

Enrollment

Arm

Anticipated Duration (Months)

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Kidney Stone	Other: Controlled Diet Other: Glycolate Administration	N/A

Study Design

Study Type:

Interventional

Anticipated Enrollment :

4 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Masking:

None (Open Label)

Primary Purpose:

Other

Official Title:

Heterozygous Individuals for AGXT and Kidney Stones

Anticipated Study Start Date :

Jan 1, 2023

Anticipated Primary Completion Date :

Jan 1, 2025

Anticipated Study Completion Date :

Dec 1, 2025

Arms and Interventions

Arm	Intervention/Treatment
Experimental: Controlled Dietary Study Participants will consume the controlled diet for five days and be administered an intravenous (IV) load of glycolate. Participants will provide urine and blood samples both before the glycolate load to establish baseline levels and after the glycolate load to measure oxalate levels afterwards.	Other: Controlled Diet Participants will consume a controlled low oxalate diet for five days. Other: Glycolate Administration Participants will come to the UAB Clinical Research Unit (CRU) and be administered a glycolate load via intravenous (IV) catheter.

Arm

Intervention/Treatment

Experimental: Controlled Dietary Study

Participants will consume the controlled diet for five days and be administered an intravenous (IV) load of glycolate. Participants will provide urine and blood samples both before the glycolate load to establish baseline levels and after the glycolate load to measure oxalate levels afterwards.

Other: Controlled Diet

Participants will consume a controlled low oxalate diet for five days.

Other: Glycolate Administration

Participants will come to the UAB Clinical Research Unit (CRU) and be administered a glycolate load via intravenous (IV) catheter.

Outcome Measures

Primary Outcome Measures

Urinary Oxalate Excretion [Baseline through Day 6]
Urinary oxalate excretion from urine samples will be measured as mg/day

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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