Ireland
--:--IST
Recruiting Not applicable

Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency

NCT04987073 · tracked via the Priya Life Science France tracker
Phase
Not applicable
Started
2022-07-17
Last updated
2025-07-25

Condition(s) studied

Idiopathic Infantile Hypercalcemia - Severe Form

Investigational drug(s) / intervention(s)

skin biopsy

skin biopsy: A skin biopsy to cultivate fibroblasts.

Study summary

Preclinical evaluation of a vitamin D analog for the treatment of vitamin D 24-hydroxylase using fibroblast from patients with CYP24A1 mutation.

Eligibility

Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria: * biallelic mutation in CYP24A1 * consent Exclusion Criteria: * none

Primary outcome measure(s)

  • Effects of the analog on vitamin D induced genes' expression — 3 years
    RNA quantification of genes induced by vitamin D in presence of analog in patients' fibroblast

Trial sites (1)

FacilityCityRegionStatus
Arnaud Molin Caen Normandy Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT04987073 on ClinicalTrials.gov ↗ ← All trials in France