24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Re... | NCT03478761

Studies
24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

NCT03478761

Sponsor

Mayo Clinic

Status

Recruiting

Last Update Posted

Mar 20, 2026Actual

Enrollment

600Estimated

Phase

Not provided

Conditions

24-hydroxylase Deficiency

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2026

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 19, 2017Actual

Primary Completion Date

Dec 2030Estimated

Completion Date

Dec 2030Estimated

First Submitted Date

Mar 22, 2018

First Submission Date that Met QC Criteria

Mar 22, 2018

First Posted Date

Mar 27, 2018Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 18, 2026

Last Update Posted Date

Mar 20, 2026Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Yes

Target Follow-Up Duration

1 Year

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

600Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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 Outcomes

Measure	Description	Time Frame
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

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

24-hydroxylase deficiency and CYP24A1 mutation patient

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Barb M Seide, CCRP	Contact	507-255-0387		seide.barbara@mayo.edu
Rare Kidney Stone Consortium	Contact	800-270-4637		RareKidneyStones@mayo.edu

Overall Officials

Name	Affiliation	Role
David Sas, MD	Mayo Clinic	Principal Investigator
Peter Tebben, MD	Mayo Clinic	Study Director

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Mayo Clinic	Recruiting	Rochester	Minnesota	55905	United States

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided