Vitamin D analog for CYP24A1 (24‑hydroxylase) deficiency
Official title: Preclinic Evaluation of a Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency
Run by University Hospital, Caen · NCT04987073 · Data updated 2026-11-12
This will try a lab-made vitamin D–like compound on skin cells from people with severe CYP24A1-related infantile hypercalcemia to see if it corrects abnormal vitamin D processing.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 30 (estimated) |
| Sponsor | University Hospital, Caen Academic / other |
| Locations | 1 site (Caen, Normandy) |
| Status | Recruiting |
| Started | July 17, 2022 |
| Main results expected | July 1, 2026 |
| Study ends | July 1, 2027 |
| Registry record updated | July 25, 2025 |
| Trial ID | NCT04987073 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
People with confirmed biallelic CYP24A1 mutations who can consent (or have a guardian consent) and are willing to undergo a small skin biopsy are ideal candidates.
✕Probably not a fit
Patients without confirmed CYP24A1 biallelic mutations or those seeking immediate clinical treatment are unlikely to receive direct benefit from this laboratory-based research.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
Investigators obtain a small skin biopsy from consenting patients with biallelic CYP24A1 mutations and grow fibroblasts for laboratory testing. The cells are exposed to a vitamin D analog and researchers measure vitamin D metabolite patterns and markers of 24‑hydroxylase activity. The work aims to determine whether the analog is handled differently by mutant cells or can restore normal downstream signaling. All testing is preclinical and conducted on patient-derived samples at the University Hospital Caen.
Why it matters
Potential benefit: If successful, this could identify a targeted compound that corrects abnormal vitamin D breakdown and potentially reduce episodes of severe hypercalcemia in affected patients.
How similar studies have gone: Vitamin D analogs have been used for other vitamin D disorders, but applying an analog specifically to correct CYP24A1 deficiency in patient cells is largely novel and unproven in humans.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * biallelic mutation in CYP24A1 * consent Exclusion Criteria: * none
Where it's running
-
Arnaud Molin
Caen, Normandy, France Recruiting
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.