Recruiting

Observational Study

Sponsor:

Mayo Clinic

Code:

NCT03478761

Conditions

24-hydroxylase Deficiency

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

24-hydroxylase Deficiency

Study ID

NCT03478761

Start date

Oct 19, 2017

Status verified date

Mar, 2026

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

600 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency [ Time Frame: yearly ]

Central Contacts and Locations

Central contacts

Barb M Seide, CCRP

507-255-0387seide.barbara@mayo.edu

Rare Kidney Stone Consortium

800-270-4637RareKidneyStones@mayo.edu

Locations

Mayo Clinic

Recruiting

Rochester, Minnesota, United States, 55905

Contacts

Barbara M Seide, CCRP

800-270-4637rarekidneystones@mayo.edu

Carly Banks, CCRP

800-270-4637rarekidneystones@mayo.edu

More Information

Sponsor

Mayo Clinic

Last update posted

Mar 20, 2026

Last verified

Mar, 2026

Keywords

  • CYP24A1 mutation
  • CYP24A1
  • 24-hydroxylase deficiency

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Mayo Clinic on 2026-03-20.