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