An interventional study of Lithiasis assessment in Hyperoxaluria (Disorder), sponsored by Hospices Civils de Lyon. Completed at 1 site in France. Open to participants aged 18 Years to 75 Years. Per ClinicalTrials.gov, last updated 2026-05-06.
Sponsored by Hospices Civils de Lyon · Not applicable, Interventional, and Basic science
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.
51 studies on the registry are indexed under Hyperoxaluria; 11 are open to participants now.
This study's enrollment of 25 is below the median of 32 across 34 interventional studies indexed under Hyperoxaluria.
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Diagnostic Test: Lithiasis assessment
Diagnostic Test: Lithiasis assessment
Measurement of oxaluria and glycolaturia on 24 h urine collection, identification of lithiasis disease (biological and ultrasound) and search for lithiasis risk factors.
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.
Time frame: At Day 0
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.
Time frame: At Day 0
Lithiasis disease severity
Assessing the severity of lithiasis by questioning the frequency of stones and need for urological intervention.
Time frame: At Day 0
Lithiasis disease severity
Assessing the severity of lithiasis by using renal ultrasound (size and number of visualized stones)
Time frame: 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 )
Time frame: At Day 0
Lithiasis disease severity
Assessing the severity of lithiasis by the number and type of crystals.
Time frame: 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.
Time frame: At Day 0
Predisposing conditions for lithiasis disease
Assessing the presence of other gene mutations in lithiasis disease using exome sequencing.
Time frame: At Day 0
This study is completed, as verified in Apr 2026. You cannot join it, but the record below documents what was studied.
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