Is CYP24A1 Heterozygosity a Risk Factor for Nephrolithiasis?

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

45 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-12-01

Study Completion Date

2028-04-01

Brief Summary

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Biallelic loss-of-function variants in CYP24A1 have been identified as a common genetic cause of autosomal recessive hypercalcemia (ARH, ORPHA 300547, 1 in 80,000 live births), characterized by low PTH (parathyroid hormone) levels, a high 25-OH D/24,25-(OH)₂D ratio, and susceptibility to vitamin D intoxication.

In humans, heterozygous pathogenic variants in CYP24A1 have been proposed both as responsible for an autosomal dominant disorder and as a risk factor for nephrolithiasis, but the rarity and heterogeneity of human data prevent a definitive answer to this crucial question.

Nephrolithiasis is a complex disease in which nutritional factors - particularly sodium and protein intake (leading to hypercalciuria) - play a key role. It also has a heritability of 50%, suggesting the involvement of many genetic susceptibility factors, as well as monogenic forms (mainly autosomal recessive, but also dominant or X-linked), which have been identified in 10-20% of patients.

The increasing prevalence of nephrolithiasis, affecting approximately 10% of the general population over a lifetime, has a significant financial impact on healthcare systems and imposes a major burden of morbidity, justifying further investigation into the genetic underpinnings of nephrolithiasis.

The goal of the HeteroCYP project is to improve understanding of the phenotypes associated with heterozygous, compound heterozygous, and homozygous variants of CYP24A1 by comparing clinical and biological outcomes in patients according to their mutation type

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Detailed Description

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Conditions

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Nephrolithiasis

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients carriers of a heterozygous CYP2A1 mutation

Patients carriers of a heterozygous CYP2A1 mutation with or without symptoms: history of nephrocalcinosis or nephrolithiasis

Supplementary blood samples for PBMC analysis at V2

Intervention Type BIOLOGICAL

Supplementary blood (serum and plasma) and urines samples for bio collection at V3

Patients carriers of homozygous, and compound heterozygous CYP2A1 mutation

Patients carriers of homozygous, and compound heterozygous CYP2A1 mutation with or without symptoms: history of nephrocalcinosis or nephrolithiasis

Supplementary blood samples for PBMC analysis at V2

Intervention Type BIOLOGICAL

Supplementary blood (serum and plasma) and urines samples for bio collection at V3

Interventions

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Supplementary blood samples for PBMC analysis at V2

Supplementary blood (serum and plasma) and urines samples for bio collection at V3

Intervention Type BIOLOGICAL

Eligibility Criteria

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Inclusion Criteria

Group 1: Heterozygous Patients

* Aged between 2 and 90 years
* Weight \> 12 kg
* Carriers of a heterozygous CYP24A1 mutation
* With or without symptoms: history of nephrocalcinosis or kidney stones

Group 2: Homozygous / Compound Heterozygous Patients

* Aged between 2 and 90 years
* Weight \> 12 kg
* Carriers of a homozygous or compound heterozygous CYP24A1 mutation
* With or without symptoms: history of nephrocalcinosis or kidney stones

Exclusion Criteria

* Individuals unable to collect 24-hour urine
* Individuals unable to be available for a full day in a day hospital (HDJ)
* Pregnant, postpartum, or breastfeeding women
* Individuals deprived of liberty by judicial or administrative decision
* Individuals receiving psychiatric care
* Individuals admitted to a healthcare or social institution for reasons other than participation in research
* Adults under legal protection (guardianship or trusteeship)
* Individuals not affiliated with a social security system or not benefiting from an equivalent scheme

Minimum Eligible Age

2 Years

Maximum Eligible Age

90 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No