Mayo Clinic
Rochester, Minnesota, 55905, United States
Location status: Recruiting
Location contact
Barbara M Seide, CCRP
CONTACT
Carly Banks, CCRP
CONTACT
Recruiting
NCT Number: NCT03478761
24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
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.
Recruiting
Interested in participating?
Request InfoKey information
Conditions
Sex eligibility
All sexes
Study type
Observational
Primary location
About this study
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.
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
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
Treatment and study plan
Primary outcomes
-
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.
Secondary outcomes
-
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.
Study contacts
Contact information is provided by the study sponsor or research team.
Barb M Seide, CCRP
CONTACT
Rare Kidney Stone Consortium
CONTACT
Sponsors and collaborators
Lead sponsor
Mayo Clinic
Other
Registry information
Important dates
- Study start
- 2017
- Primary completion
- 2030
- Study completion
- 2030
- First posted
- Mar 27, 2018
- Registry last updated
- Mar 20, 2026
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.