24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

Launched by MAYO CLINIC · Mar 22, 2018

Keywords

ClinConnect Summary

The 24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry is a research study looking to gather information about people who may have a condition called 24-hydroxylase deficiency. This condition can lead to problems like kidney stones and bone disease. If you or a family member has undergone genetic testing for a specific mutation (called CYP24A1) and has at least three related health issues—such as urinary stone disease, certain calcium levels, or metabolic bone disease—you may qualify to participate in this registry. This includes patients and their family members.

Participants in this study can expect to provide some health information and possibly undergo further testing. The registry aims to collect data that will help researchers better understand this condition and improve future treatments. It’s important to note that individuals who have been tested for the CYP24A1 mutation but have a different diagnosis explaining their symptoms won't be eligible to join the study. Your involvement could help others facing similar health challenges.

Gender

ALL

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