24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

600 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-10-19

Study Completion Date

2025-12-31

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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24-hydroxylase Deficiency

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Eligibility Criteria

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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

Eligible Sex

ALL

Accepts Healthy Volunteers

No