24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

24-hydroxylase Deficiency Clinical Trial

Official title:

24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03478761
• Other study ID #: 17-003972
• Status: Recruiting
• Start date: October 19, 2017
• Est. completion date: December 2025

Study information

• Verified date: March 2024
• Source: Mayo Clinic
• Contact: Barb M Seide, CCRP
• Phone: 507-255-0387
• Email: seide.barbara[@]mayo.edu
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 600
• Est. completion date: December 2025
• Est. primary completion date: December 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• 24-hydroxylase Deficiency

Locations

Country	Name	City	State
United States	Mayo Clinic	Rochester	Minnesota

Sponsors (1)

Lead Sponsor	Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	yearly
Secondary	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.	yearly