Registry for Patients with 24-Hydroxylase Deficiency and CYP24A1 Mutation to Collect Clinical Data

What this Trial Is About

This research registry focuses on individuals suspected or confirmed to have 24-hydroxylase deficiency, a rare condition related to the CYP24A1 gene mutation. The goal is to collect and maintain detailed data about this disease to help improve understanding and support future research efforts. This is the first and only registry of its kind, aiming to assist clinicians and scientists at Mayo Clinic in their work on diagnosis and treatment. Participants in this registry will be those who have undergone genetic testing for CYP24A1 mutation and meet specific clinical criteria related to urinary stone disease, kidney calcification, bone disease, and certain blood test results, or are family members of such patients. The registry does not involve treatment but collects ongoing health information yearly to track disease symptoms and progression. During the study, researchers will gather data from medical records, genetic tests, and clinical evaluations to establish and maintain the registry. Participants health outcomes and disease development will be monitored yearly to improve knowledge about 24-hydroxylase deficiency. The registry participation duration extends as long as data is collected, with results shared to support medical advances and patient care.

24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry