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24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
RecruitingObservational study
Who can join
All ages · All sexes
Full eligibility criteria
Inclusion Criteria: 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 Criteria: 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
About the study
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.
Sponsor: Mayo Clinic · Participants: 600 · Started: Oct 19, 2017
Contact the study team
- Barb M Seide, CCRP · Phone: 507-255-0387
- Rare Kidney Stone Consortium · Phone: 800-270-4637
Official record on ClinicalTrials.gov — NCT03478761
Locations in the U.S.
| Minnesota | Mayo Clinic, Rochester |
From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.