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Recruiting NCT04987073
Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency
Trial Parameters
Condition Idiopathic Infantile Hypercalcemia - Severe Form
Sponsor University Hospital, Caen
Study Type INTERVENTIONAL
Phase N/A
Enrollment 30
Sex ALL
Min Age 18 Years
Max Age N/A
Start Date 2022-07-17
Completion 2026-07-01
Interventions
skin biopsy
Brief Summary
Preclinical evaluation of a vitamin D analog for the treatment of vitamin D 24-hydroxylase using fibroblast from patients with CYP24A1 mutation.
Eligibility Criteria
Inclusion Criteria: * biallelic mutation in CYP24A1 * consent Exclusion Criteria: * none