24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry


  • Study type

  • Study IDs

  • Describes the nature of a clinical study. Types include:

    • Observational study — observes people and measures outcomes without affecting results.
    • Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
    • Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
  • Site IRB
    • Rochester, Minnesota: 17-003972
    NCT ID: NCT03478761
    Sponsor Protocol Number: 17-003972

About this 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.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. If you need assistance understanding the eligibility criteria, please contact the study team.

See 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

Participating Mayo Clinic locations

Study statuses change often. Please contact us for help.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

David Sas, D.O.

Open for enrollment

Contact information:

Carly Banks CCRP



More information


Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available


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