24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry


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. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

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 the study team for the most up-to-date information regarding possible participation.

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


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