24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

Mayo Clinic

Status: Enrolling

Conditions: 24-hydroxylase Deficiency

Study type: Observational

Funder types: Other

Identifiers

NCT03478761

17-003972

Details and patient eligibility

About

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.

Full 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.

Enrollment: 600 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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