NCT03478761 24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
| NCT ID | NCT03478761 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Mayo Clinic |
| Condition | 24-hydroxylase Deficiency |
| Study Type | OBSERVATIONAL |
| Enrollment | 600 participants |
| Start Date | 2017-10-19 |
| Primary Completion | 2030-12 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 600 participants in total. It began in 2017-10-19 with a primary completion date of 2030-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
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
Contact & Investigator
David Sas, MD
PRINCIPAL INVESTIGATOR
Mayo Clinic
Frequently Asked Questions
Who can join the NCT03478761 clinical trial?
This trial is open to participants of all sexes, studying 24-hydroxylase Deficiency. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT03478761 currently recruiting?
Yes, NCT03478761 is actively recruiting participants. Contact the research team at seide.barbara@mayo.edu for enrollment information.
Where is the NCT03478761 trial being conducted?
This trial is being conducted at Rochester, United States.
Who is sponsoring the NCT03478761 clinical trial?
NCT03478761 is sponsored by Mayo Clinic. The principal investigator is David Sas, MD at Mayo Clinic. The trial plans to enroll 600 participants.