Recruiting NCT04987073
Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: skin biopsy.
- Who it may be relevant to
- Registry conditions: Idiopathic Infantile Hypercalcemia - Severe Form. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Preclinic Evaluation of a Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency
Overview
Preclinical evaluation of a vitamin D analog for the treatment of vitamin D 24-hydroxylase using fibroblast from patients with CYP24A1 mutation.
Interventions
- Procedure skin biopsy
A skin biopsy to cultivate fibroblasts.
Primary outcome measures
- Effects of the analog on vitamin D induced genes' expression [Time frame: 3 years]
Eligibility criteria
Inclusion criteria
- biallelic mutation in CYP24A1
- consent
Exclusion criteria
- none
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Treatment
Study locations
France · 1 center
- Arnaud Molin — Caen
Identifiers
NCT: NCT04987073 · 2020-A03281-38