24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

Mayo Clinic600 enrolled

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.

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.

Study Type

OBSERVATIONAL

Enrollment

600

Conditions

24-hydroxylase Deficiency

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (1)

Mayo Clinic

Rochester, Minnesota, United States

RECRUITING

Outcomes

Primary Outcomes

establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency

This patient registry will expand knowledge of the clinical expression of this disease by systematically accumulating and analyzing information regarding a larger number of patients than have been studied to date.

Time frame: yearly

Secondary Outcomes

Improved understanding of symptoms and progression of this disease

The goal of the patient registry is to collect data about this rare diseases, provide a better understanding of this conditions and help to develop new treatments.

Time frame: yearly

Central Contacts

Barb M Seide, CCRP

CONTACT

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

Rare Kidney Stone Consortium

CONTACT

800-270-4637 RareKidneyStones@mayo.edu

Data from ClinicalTrials.gov

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