24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Mayo Clinic
- Enrollment
- 600
- Locations
- 1
- Primary Endpoint
- establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency
Study Overview
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.
Detailed 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.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Other
Eligibility Criteria
- Sex
- All
- Accepts Healthy Volunteers
- No
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
- •Tuberculosis
- •Fungal infections
- •Excessive exogenous calcium or vitamin D intake
Outcomes
Primary Outcomes
establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency
Time Frame: yearly
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.
Secondary Outcomes
- Improved understanding of symptoms and progression of this disease(yearly)
Investigators
David J. Sas
Principal Investigator
Mayo Clinic