24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

Recruiting now

Conditions studied: 24-hydroxylase Deficiency

In brief

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.

Key facts

Study ID

NCT03478761

Run by

Mayo Clinic

People needed

600

Starts

2017-10-19

Expected to finish

2030-12-01

Last updated by the study team

2026-03-20

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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

Where it is running

• Mayo Clinic — Rochester, Minnesota, United States (enrolling)

Full record on ClinicalTrials.gov

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