Examining oxalate levels in patients with a specific genetic mutation
Oxalate Excretion Profile in Patients with a Heterozygous Mutation of the AGXT (alanine-glyoxylate Aminotransferase) Gene - Influence of Hygienic and Dietary Conditions and Identification of Favouring Factors by Comparison of Asymptomatic and Symptomatic Patients (lithiasis or Oxalic Nephropathy)
NA · Hospices Civils de Lyon · NCT06283082
This study is testing how much oxalate is in the urine of patients with a specific genetic mutation linked to kidney stones to see if they have any symptoms even though they were thought to be symptom-free.
Quick facts
| Phase | NA |
|---|---|
| Study type | Interventional |
| Enrollment | 25 (estimated) |
| Ages | 18 Years to 75 Years |
| Sex | All |
| Sponsor | Hospices Civils de Lyon (other) |
| Locations | 1 site (Lyon) |
| Trial ID | NCT06283082 on ClinicalTrials.gov |
What this trial studies
This study investigates the oxalate excretion profile in patients who have a heterozygous mutation of the AGXT gene, which is linked to primary hyperoxaluria type I (PH1). PH1 is a rare genetic disorder that can lead to severe kidney stones and renal failure due to increased oxalate production. The study aims to assess the presence of symptoms related to kidney stones and nephrocalcinosis in these patients, who were previously thought to be asymptomatic. Participants will undergo lithiasis assessment and provide 24-hour urine samples to evaluate their oxalate levels.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with a heterozygous mutation in the AGXT gene who may or may not present symptoms related to kidney stones.
Not a fit: Patients without a heterozygous mutation in the AGXT gene or those unable to provide necessary urine samples will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and management of hyperoxaluria in patients with AGXT mutations, potentially improving their kidney health.
How similar studies have performed: While there is limited data on studies specifically targeting heterozygous AGXT mutation patients, similar investigations into hyperoxaluria have shown promising results in understanding the condition.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Presenting an heterozygous mutation on AGXT * Presenting symptoms (presence or history of stones, nephrocalcinosis) or not Exclusion Criteria: * Individuals unable to provide 24-hour urine samples. * Individuals unable to free up a morning for day hospital appointments * Individuals deprived of liberty by a judicial or administrative decision. * Adults under a legal protection measure (guardianship, trusteeship). * Individuals placed under judicial protection. * Participants enrolled in another study with an ongoing exclusion period * Pregnant women. * Individuals not covered by social security
Where this trial is running
Lyon
- CLIMA, pavillon R, Hôpital Edouard Herriot — Lyon, France (RECRUITING)
Study contacts
- Study coordinator: Laurence DERAIN, MD, PhD
- Email: laurence.derain@chu-lyon.fr
- Phone: 04 72 11 91 17
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Hyperoxaluria, AGXT heterozygous mutation, lithiasis, nutrition, nephropathy