Vitamin D analog for CYP24A1 (24‑hydroxylase) deficiency
Preclinic Evaluation of a Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency
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
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 30 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | University Hospital, Caen Academic / other |
| Locations | 1 site (Caen, Normandy) |
| Trial ID | NCT04987073 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: 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.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * biallelic mutation in CYP24A1 * consent Exclusion Criteria: * none
Where this trial is running
Caen, Normandy
- Arnaud Molin — Caen, Normandy, France (Recruiting)
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.