24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

Description

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

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Study Overview

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Study Details

Study overview

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.

24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

Condition
24-hydroxylase Deficiency
Intervention / Treatment

-

Contacts and Locations

Rochester

Mayo Clinic, Rochester, Minnesota, United States, 55905

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * 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
  • * Sarcoidosis
  • * Lymphoma
  • * Tuberculosis
  • * Fungal infections
  • * Excessive exogenous calcium or vitamin D intake

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Mayo Clinic,

David Sas, MD, PRINCIPAL_INVESTIGATOR, Mayo Clinic

Peter Tebben, MD, STUDY_DIRECTOR, Mayo Clinic

Study Record Dates

2025-12