24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

Last updated: April 1, 2025
Sponsor: Mayo Clinic
Overall Status: Active - Recruiting

Phase

N/A

Condition

N/A

Treatment

N/A

Clinical Study ID

NCT03478761
17-003972
  • All Genders

Study 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.

Eligibility Criteria

Inclusion

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 theabove criteria

Exclusion

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

Study Design

Total Participants: 600
Study Start date:
October 19, 2017
Estimated Completion Date:
December 31, 2025

Study 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 be the first and only known registry of its kind. These resources would be made widely available to clinicians and research scientists within Mayo to stimulate advances in the diagnosis and treatment of patients with this disease.

Connect with a study center

  • Mayo Clinic

    Rochester, Minnesota 55905
    United States

    Active - Recruiting

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