24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

March 28, 2024 updated by: David J. Sas, Mayo Clinic
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.

Study Overview

Status

Recruiting

Conditions

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 Type

Observational

Enrollment (Estimated)

600

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

24-hydroxylase deficiency and CYP24A1 mutation patient

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
yearly

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Improved understanding of symptoms and progression of this disease
Time Frame: 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.
yearly

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Mayo Clinic

Investigators

  • Principal Investigator: David Sas, MD, Mayo Clinic
  • Study Director: Peter Tebben, MD, Mayo Clinic

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 19, 2017

Primary Completion (Estimated)

December 1, 2025

Study Completion (Estimated)

December 1, 2025

Study Registration Dates

First Submitted

March 22, 2018

First Submitted That Met QC Criteria

March 22, 2018

First Posted (Actual)

March 27, 2018

Study Record Updates

Last Update Posted (Actual)

March 29, 2024

Last Update Submitted That Met QC Criteria

March 28, 2024

Last Verified

March 1, 2024

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • 17-003972

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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