24-hydroxylase DeficiencyNCT03478761
24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
An observational study of 24-hydroxylase Deficiency, run by Mayo Clinic at 1 site in United States.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- 24-hydroxylase Deficiency
- How many people
- 600 participants
- Where
- 1 siteUnited States
- Study dates
- 19 Oct 2017to Dec 2030
- How long will I take part?
- 1 Year
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 24-hydroxylase deficiency and CYP24A1 mutation patient
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Mayo Clinic
Rochester, Minnesota, 55905
Barbara M Seide, CCRP, 800-270-4637, rarekidneystones@mayo.edu
Carly Banks, CCRP, 800-270-4637, rarekidneystones@mayo.edu
About this study
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.
Read the 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.
- Conditions
- 24-hydroxylase Deficiency
- Keywords
- CYP24A1 mutation, CYP24A1, 24-hydroxylase deficiency
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: yearly
Secondary outcomes (1)
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.
Measured: yearly
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Mar 2018
- Study start19 Oct 2017
- Primary completionDec 2030 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for 24-hydroxylase DeficiencyStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 600 participants (estimated)
- Target duration
- 1 Year
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, David J. Sas, Mayo Clinic
- Investigators
- David Sas, MD, Principal investigator, Mayo ClinicPeter Tebben, MD, Study director, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03478761
- Sponsor's protocol ID
- 17-003972
- Status last verified
- Mar 2026
- First submitted
- 22 Mar 2018
- Last updated
- 20 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
- ClinicalTrials.gov ID
- NCT03478761
- Acronym / sponsor ID
- 17-003972
- Conditions
- 24-hydroxylase Deficiency
- Keywords
- CYP24A1 mutation, CYP24A1, 24-hydroxylase deficiency
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Study start
- 19 Oct 2017 (actual)
- Primary completion
- Dec 2030 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 27 Mar 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 1 Year
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 24-hydroxylase deficiency and CYP24A1 mutation patient
Key inclusion criteria (7 listed)
- 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
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
Improved understanding of symptoms and progression of this disease
Time frame: yearly
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Mar 2026.
- Individual participant dataSharing planned: No
Related trials for 24-hydroxylase Deficiency
RecruitingObservational study
Monogenic Kidney Stone - Genetic Testing
Rare Kidney Stone Diseases
Recruiting
Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency
Idiopathic Infantile Hypercalcemia - Severe Form
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
David Sas, MD principal investigator
Mayo Clinic
Peter Tebben, MD study director
Mayo Clinic
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of 24-hydroxylase Deficiency, run by Mayo Clinic at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 20 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Barb M Seide, CCRP (507-255-0387, seide.barbara@mayo.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency (time frame: yearly). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Mar 2026.