NCT03478761 · Mayo Clinic
24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
What this study is about
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.
View original scientific description
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.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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
- Tuberculosis
- Fungal infections
- Excessive exogenous calcium or vitamin D intake
Where
- Rochester, Minnesota
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Mar 20, 2026 · Source of record for eligibility and locations