Registry for 24-Hydroxylase Deficiency and CYP24A1 Mutation
This is an observational study creating a registry for people with suspected or confirmed 24-hydroxylase deficiency, a condition that affects how your body processes vitamin D. The registry aims to gather information about patients with this condition to help doctors and researchers better understand and treat it. You might be able to join if you or a family member has had genetic testing for a CYP24A1 mutation and also have at least three of the following: kidney stones (urinary stone disease), calcium deposits in the kidneys (nephrocalcinosis), bone problems (metabolic bone disease), high calcium levels in your blood, low parathyroid hormone (PTH) levels, or high 1,25-dihydroxyvitamin D levels. The main goal of this study is to establish and maintain this registry, which will be measured yearly. The current recruitment status is unclear.
- Study design
- This is an observational study, meaning researchers will collect information without providing any specific interventions. The study plans to include 600 participants.
- What's involved
- Not specified in the trial record.
- Compensation
- Not stated in the trial record.
- Follow-up
- The primary endpoint of establishing and maintaining the registry is measured yearly.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
At a glance
Conditions
NCT03478761
Where you'd take part
This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
Mayo Clinic
Rochester, Minnesotastudy coordinator listed
Recruiting
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Study leadership
- David Sas, MD · PRINCIPAL_INVESTIGATOR · Mayo Clinic
- Peter Tebben, MD · STUDY_DIRECTOR · Mayo Clinic
Who to contact
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Inclusion
Exclusion
What this trial measures
- establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiencyyearly
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.