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Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency

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

Status
Recruiting
Phases
NA
Study type
Interventional
Source
ClinicalTrials.gov
Registry ID
NCT04987073
Acronym
VaraD-Cell
Enrollment
30
Registered
2021-08-03
Start date
2022-07-17
Completion date
2027-07-01
Last updated
2025-07-25

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Idiopathic Infantile Hypercalcemia - Severe Form

Keywords

CYP24A1, vitamin D

Brief summary

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

Interventions

PROCEDUREskin biopsy

A skin biopsy to cultivate fibroblasts.

Sponsors

University Hospital, Caen
Lead SponsorOTHER

Study design

Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE

Eligibility

Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No

Inclusion criteria

* biallelic mutation in CYP24A1 * consent

Exclusion criteria

* none

Design outcomes

Primary

MeasureTime frameDescription
Effects of the analog on vitamin D induced genes' expression3 yearsRNA quantification of genes induced by vitamin D in presence of analog in patients' fibroblast

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026