Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency

University Hospital, Caen30 enrolled

Overview

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

Study Type

INTERVENTIONAL

Allocation

Purpose

TREATMENT

Masking

NONE

Enrollment

A skin biopsy to cultivate fibroblasts.

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * biallelic mutation in CYP24A1 * consent Exclusion Criteria: * none

Arnaud Molin

Caen, Normandy, France

RECRUITING

Effects of the analog on vitamin D induced genes' expression

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

Time frame: 3 years

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