Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency (VaraD-Cell)

Caen University Hospital

Status: Enrolling

Conditions: Idiopathic Infantile Hypercalcemia - Severe Form

Treatments: Procedure: skin biopsy

Study type: Interventional

Funder types: Other

Identifiers

NCT04987073

2020-A03281-38

Details and patient eligibility

About

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

Enrollment: 30 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• biallelic mutation in CYP24A1
• consent

Exclusion criteria

• none

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

---

30 participants in 1 patient group

patients with CYP24A1 mutation

Experimental group

Treatment:

Procedure: skin biopsy