Hyperoxaluria (Disorder)HETEROXNCT06283082
Oxalate Excretion Profile in Patients With a Heterozygous Mutation of the AGXT (Alanine-glyoxylate Aminotransferase) Gene
A study testing Lithiasis assessment in people with Hyperoxaluria (Disorder), run by Hospices Civils de Lyon at 1 site in France.
Trial summary
Primary hyperoxaluria type I (PH1) is a rare genetic disorder responsible for severe lithiasis leading to progressive deterioration of renal function and end-stage renal failure. Read more about this study
- Who is it for?
- Ages 18 to 75 years
- Conditions the study is for
- Hyperoxaluria (Disorder)
- What is being tested?
- Lithiasis assessment
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 25 participants
- Where
- 1 siteFrance
- Study dates
- 11 Dec 2024to 1 Dec 2025
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 75 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Presenting an heterozygous mutation on AGXT
- Presenting symptoms (presence or history of stones, nephrocalcinosis) or not
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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)
Primary hyperoxaluria type I (PH1) is a rare genetic disorder responsible for severe lithiasis leading to progressive deterioration of renal function and end-stage renal failure. PH1 is linked to a deficiency in glyoxylate amino transferase (AGXT), which leads to increased endogenous oxalate synthesis and hyperoxaluria. In the urine, urinary oxalate precipitates with calcium, forming insoluble crystals, leading to lithiasis and the development of nephrocalcinosis.
Non-genetic etiologies of oxalic nephropathy are well known, in particular enteric causes (malabsorptions, bypass, calcium deficiencies, etc.) and sometimes linked to increased oxalate intake in the form of nutritional or vitamin supplements, reinforcing the hypothesis of probably underestimated favouring factors of hyperoxaluria.
Read more
Until now, heterozygous patients with a mutation in the AGXT gene were considered asymptomatic. However, there have been several cases of patients with heterozygous AGXT mutations presenting with lithiasis.
Consequently, the characteristics of symptomatic and asymptomatic heterozygous patients will be studied in order to define the elements that would explain the expression of the disease (particularities of the AGXT mutation, presence of another heterozygous mutation or favorable living conditions).
The hypothesis is that there is an increase in hepatic oxalate production in heterozygous patients, which explains why they remain asymptomatic under usual conditions, but could favor stone formation under favorable conditions such as severe calcium deficiency or malabsorption.
- Conditions
- Hyperoxaluria (Disorder)
- Being tested
- Lithiasis assessment
- Keywords
- AGXT heterozygous mutation, lithiasis, nutrition, nephropathy
- Medical subject headings
- Hyperoxaluria, Lithiasis, Kidney Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Lithiasis assessmentDiagnostic test
Measurement of oxaluria and glycolaturia on 24 h urine collection, identification of lithiasis disease (biological and ultrasound) and search for lithiasis risk factors.
| Study group | Role | What they receive |
|---|---|---|
| Asymptomatic subjects with an AGXT heterozygous mutation | Experimental | Not described Receives: Diagnostic Test: Lithiasis assessment |
| Symptomatic subjects with an AGXT heterozygous mutation | Active comparator | Not described Receives: Diagnostic Test: Lithiasis assessment |
What is being measured
The primary outcome is the main question the study is designed to answer.
Urinary oxalate and glycolate excretion
Comparison of urinary oxalate and glycolate excretion expressed in mmol/L and mmol/24h of symptomatic versus asymptomatic heterozygous AGXT subjects.
Measured: At Day 0
Secondary outcomes (7)
The prevalence of stones
Evaluating the prevalence of stones in asymptomatic heterozygous patients for the AGXT gene using renal ultrasound and through questioning the family history of renal colic or lithiasis and fracture.
Measured: At Day 0
Lithiasis disease severity
Assessing the severity of lithiasis by questioning the frequency of stones and need for urological intervention.
Measured: At Day 0
Lithiasis disease severity
Assessing the severity of lithiasis by using renal ultrasound (size and number of visualized stones)
Measured: At Day 0
Lithiasis disease severity
Assessing the severity of lithiasis by renal function using creatinine level and estimation of glomerular filtration rate (GFR) and Chronic Kidney Disease Epidemiology (CKD-EPI )
Measured: At Day 0
Lithiasis disease severity
Assessing the severity of lithiasis by the number and type of crystals.
Measured: At Day 0
Predisposing conditions for lithiasis disease
Assessing the role of dietary habits in lithiasis disease by using food diary and particularly Fardelonne questionaire.
Measured: At Day 0
Predisposing conditions for lithiasis disease
Assessing the presence of other gene mutations in lithiasis disease using exome sequencing.
Measured: At Day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Feb 2024
- Study start11 Dec 2024
- Primary completion8 Nov 2025
- Study completion1 Dec 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hyperoxaluria (Disorder)Studies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 25 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06283082
- Sponsor's protocol ID
- 69HCL23_0617
- Other IDs
- ID-RCB
- Acronym
- HETEROX
- Status last verified
- Apr 2026
- First submitted
- 14 Feb 2024
- Last updated
- 6 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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)
- ClinicalTrials.gov ID
- NCT06283082
- Acronym / sponsor ID
- HETEROX / 69HCL23_0617
- Conditions
- Hyperoxaluria (Disorder)
- Keywords
- AGXT heterozygous mutation, lithiasis, nutrition, nephropathy
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 25 participants (actual)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 11 Dec 2024 (actual)
- Primary completion
- 8 Nov 2025 (actual)
- Study completion
- 1 Dec 2025 (actual)
- First posted
- 28 Feb 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Primary hyperoxaluria type I (PH1) is a rare genetic disorder responsible for severe lithiasis leading to progressive deterioration of renal function and end-stage renal failure. PH1 is linked to a deficiency in glyoxylate amino transferase (AGXT), which leads to increased endogenous oxalate synthesis and hyperoxaluria. In the urine, urinary oxalate precipitates with calcium, forming insoluble crystals, leading to lithiasis and the development of nephrocalcinosis.
Non-genetic etiologies of oxalic nephropathy are well known, in particular enteric causes (malabsorptions, bypass, calcium deficiencies, etc.) and sometimes linked to increased oxalate intake in the form of nutritional or vitamin supplements, reinforcing the hypothesis of probably underestimated favouring factors of hyperoxaluria.
Until now, heterozygous patients with a mutation in the AGXT gene were considered asymptomatic. However, there have been several cases of patients with heterozygous AGXT mutations presenting with lithiasis.
Consequently, the characteristics of symptomatic and asymptomatic heterozygous patients will be studied in order to define the elements that would explain the expression of the disease (particularities of the AGXT mutation, presence of another heterozygous mutation or favorable living conditions).
The hypothesis is that there is an increase in hepatic oxalate production in heterozygous patients, which explains why they remain asymptomatic under usual conditions, but could favor stone formation under favorable conditions such as severe calcium deficiency or malabsorption.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Asymptomatic subjects with an AGXT heterozygous mutation | Experimental | Diagnostic Test: Lithiasis assessment |
| Symptomatic subjects with an AGXT heterozygous mutation | Active comparator | Diagnostic Test: Lithiasis assessment |
Who may qualify
- Ages
- 18 to 75 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- Presenting an heterozygous mutation on AGXT
- Presenting symptoms (presence or history of stones, nephrocalcinosis) or not
Key exclusion criteria (8 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Lithiasis assessmentMeasurement of oxaluria and glycolaturia on 24 h urine collection, identification of lithiasis disease (biological and ultrasound) and search for lithiasis risk factors. | Diagnostic test | Asymptomatic subjects with an AGXT heterozygous mutation, Symptomatic subjects with an AGXT heterozygous mutation |
Primary outcome
Urinary oxalate and glycolate excretion
Time frame: At Day 0
Comparison of urinary oxalate and glycolate excretion expressed in mmol/L and mmol/24h of symptomatic versus asymptomatic heterozygous AGXT subjects.
7 secondary outcomes
The prevalence of stones
Time frame: At Day 0
Lithiasis disease severity
Time frame: At Day 0
Lithiasis disease severity
Time frame: At Day 0
Lithiasis disease severity
Time frame: At Day 0
Lithiasis disease severity
Time frame: At Day 0
Predisposing conditions for lithiasis disease
Time frame: At Day 0
Predisposing conditions for lithiasis disease
Time frame: At Day 0
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 May 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Lithiasis assessment in people with Hyperoxaluria (Disorder), run by Hospices Civils de Lyon at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Urinary oxalate and glycolate excretion (time frame: At Day 0). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 May 2026.