Actively Recruiting
24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
Led by Mayo Clinic · Updated on 2026-03-20
600
Participants Needed
1
Research Sites
684 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
You are being asked to take part in this research registry because you or your family member is suspected to have a 24-hydroxylase deficiency.
CONDITIONS
Official Title
24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients who have undergone genetic testing for a CYP24A1 mutation with at least 3 of the following: urinary stone disease, nephrocalcinosis, metabolic bone disease, serum calcium greater than or equal to 9.6 mg/dL, parathyroid hormone less than 30 pg/mL, 1,25-dihydroxyvitamin D greater than 40 pg/mL
- Family members of patients who meet the above criteria
You will not qualify if you...
- Patients who tested negative for a CYP24A1 mutation
- Patients with an alternative diagnosis that might explain hypercalcemia, hypercalciuria, or stone disease, including sarcoidosis, lymphoma, tuberculosis, fungal infections, or excessive intake of calcium or vitamin D
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Mayo Clinic
Rochester, Minnesota, United States, 55905
Actively Recruiting
Research Team
B
Barb M Seide, CCRP
CONTACT
R
Rare Kidney Stone Consortium
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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