Heterozygous Individuals for AGXT and Kidney Stones

The University of Alabama at Birmingham

Status: Not yet enrolling

Conditions: Kidney Stone

Treatments: Other: Controlled Diet; Other: Glycolate Administration

Study type: Interventional

Funder types: Other

Identifiers

NCT04430426

IRB-300005327

Details and patient eligibility

About

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.

Enrollment: 4 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No 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

Exclusion criteria

• pregnant individuals
• individuals who are currently breast feeding

Trial design

Primary purpose: Other

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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4 participants in 1 patient group

Controlled Dietary Study

Experimental group

Description:

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.

Treatment:

Other: Glycolate Administration

Other: Controlled Diet