24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03478761

Enrollment

600

Registered

2018-03-27

Start date

2017-10-19

Completion date

2030-12-01

Last updated

2026-03-20

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

24-hydroxylase Deficiency

Keywords

CYP24A1 mutation, CYP24A1, 24-hydroxylase deficiency

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

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

Design outcomes

Primary

Measure	Time frame	Description
establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency	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

Measure	Time frame	Description
Improved understanding of symptoms and progression of this disease	yearly	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.

Countries

United States

Contacts

CONTACTBarb M Seide, CCRP

seide.barbara@mayo.edu507-255-0387

CONTACTRare Kidney Stone Consortium

RareKidneyStones@mayo.edu800-270-4637

PRINCIPAL_INVESTIGATORDavid Sas, MD

Mayo Clinic

STUDY_DIRECTORPeter Tebben, MD