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NCT Number: NCT04987073

Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency

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

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Key information

Conditions

Idiopathic Infantile Hypercalcemia - Severe Form

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • biallelic mutation in CYP24A1
  • consent

Exclusion criteria

  • none

Treatment and study plan

skin biopsy

Procedure

A skin biopsy to cultivate fibroblasts.

Primary outcomes

  1. Effects of the analog on vitamin D induced genes' expression

    Time frame: 3 years

    RNA quantification of genes induced by vitamin D in presence of analog in patients' fibroblast

Sponsors and collaborators

Lead sponsor

University Hospital, Caen

Other

Registry information

Official study title

Preclinic Evaluation of a Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency

Acronym: VaraD-Cell

Important dates

Study start
2022
Primary completion
2026
Study completion
2027
First posted
Aug 3, 2021
Registry last updated
Jul 25, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.