Status:
RECRUITING
24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
Lead Sponsor:
Mayo Clinic
Conditions:
24-hydroxylase Deficiency
Eligibility:
All Genders
Brief Summary
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.
Detailed Description
In this registry we propose to establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency in an effort to collect data for further investigation. This would b...
Eligibility Criteria
Inclusion
- 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 \>/= 9.6 mg/dL
- Parathyroid hormone (PTH) \< 30 pg/mL
- 1,25-dihydroxyvitamin D \> 40 pg/mL OR a family member of a patient who meets the above criteria
Exclusion
- Patients who have tested negative for a CYP24A1 mutation with an alternative diagnosis that might explain hypercalcemia/hypercalciuria/stone disease:
- Sarcoidosis
- Lymphoma
- Tuberculosis
- Fungal infections
- Excessive exogenous calcium or vitamin D intake
Key Trial Info
Start Date :
October 19 2017
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2025
Estimated Enrollment :
600 Patients enrolled
Trial Details
Trial ID
NCT03478761
Start Date
October 19 2017
End Date
December 1 2025
Last Update
April 4 2025
Active Locations (1)
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1
Mayo Clinic
Rochester, Minnesota, United States, 55905