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

Primary Purpose

Idiopathic Infantile Hypercalcemia - Severe Form

Status
Enrolling by invitation
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
skin biopsy
Sponsored by
University Hospital, Caen
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for Idiopathic Infantile Hypercalcemia - Severe Form focused on measuring CYP24A1, vitamin D

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria:

  • biallelic mutation in CYP24A1
  • consent

Exclusion Criteria:

  • none

Sites / Locations

  • Arnaud Molin

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

patients with CYP24A1 mutation

Arm Description

Outcomes

Primary Outcome Measures

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

Secondary Outcome Measures

Full Information

First Posted
July 22, 2021
Last Updated
July 23, 2021
Sponsor
University Hospital, Caen
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1. Study Identification

Unique Protocol Identification Number
NCT04987073
Brief Title
Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency
Acronym
VaraD-Cell
Official Title
Preclinic Evaluation of a Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency
Study Type
Interventional

2. Study Status

Record Verification Date
July 2021
Overall Recruitment Status
Enrolling by invitation
Study Start Date
June 15, 2021 (Actual)
Primary Completion Date
July 1, 2023 (Anticipated)
Study Completion Date
July 1, 2024 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Caen

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes

5. Study Description

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

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Idiopathic Infantile Hypercalcemia - Severe Form
Keywords
CYP24A1, vitamin D

7. Study Design

Primary Purpose
Treatment
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
30 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
patients with CYP24A1 mutation
Arm Type
Experimental
Intervention Type
Procedure
Intervention Name(s)
skin biopsy
Intervention Description
A skin biopsy to cultivate fibroblasts.
Primary Outcome Measure Information:
Title
Effects of the analog on vitamin D induced genes' expression
Description
RNA quantification of genes induced by vitamin D in presence of analog in patients' fibroblast
Time Frame
3 years

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria: biallelic mutation in CYP24A1 consent Exclusion Criteria: none
Facility Information:
Facility Name
Arnaud Molin
City
Caen
State/Province
Normandy
ZIP/Postal Code
14033
Country
France

12. IPD Sharing Statement

Plan to Share IPD
No

Learn more about this trial

Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency

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