Heterozygous Individuals for AGXT and Kidney Stones

NCT04430426 | Not Yet Recruiting

• 1 other identifier: IRB-300005327
• Study Type: interventional
• Target: 4
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Kidney Stone

Keywords

kidney stone; oxalate

Outcome Measures

Primary Outcomes (1)

• Urinary Oxalate Excretion

  Urinary oxalate excretion from urine samples will be measured as mg/day

  Baseline through Day 6

Study Arms (1)

Controlled Dietary Study

EXPERIMENTAL

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; Other: Glycolate Administration

Interventions

Controlled Diet OTHER

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

Controlled Dietary Study

Glycolate Administration OTHER

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

Controlled Dietary Study

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• pregnant individuals
• individuals who are currently breast feeding

Sponsors & Collaborators

• University of Alabama at Birmingham: lead

MeSH Terms

Conditions

Kidney Calculi

Condition Hierarchy (Ancestors)

Nephrolithiasis; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Urolithiasis; Urinary Calculi; Male Urogenital Diseases; Calculi; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Study Officials

• Kyle Wood, MD

  University of Alabama at Birmingham

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Demond Wiley

CONTACT

205-934-3671; kidneystone@uabmc.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: June 10, 2020
• First Posted: June 12, 2020
• Study Start (Estimated): July 1, 2026
• Primary Completion (Estimated): August 1, 2031
• Study Completion (Estimated): August 1, 2032
• Last Updated: July 4, 2025

Record last verified: 2025-07