Status:
NOT_YET_RECRUITING
Is CYP24A1 Heterozygosity a Risk Factor for Nephrolithiasis?
Lead Sponsor:
Hospices Civils de Lyon
Conditions:
Nephrolithiasis
Eligibility:
All Genders
2-90 years
Brief Summary
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 PT...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
December 1 2025
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
April 1 2028
Estimated Enrollment :
45 Patients enrolled
Trial Details
Trial ID
NCT07201701
Start Date
December 1 2025
End Date
April 1 2028
Last Update
December 2 2025
Active Locations (2)
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1
Hôpital Femme Mère Enfant
Bron, France
2
Hôpital Edouard Herriot
Lyon, France