Registry for patients with 24-hydroxylase deficiency and CYP24A1 mutations
24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
This study is creating a database for people with 24-hydroxylase deficiency and CYP24A1 mutations to help improve understanding and treatment of this rare condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Sex | All |
| Sponsor | Mayo Clinic Academic / other |
| Locations | 1 site (Rochester, Minnesota) |
| Trial ID | NCT03478761 on ClinicalTrials.gov |
What this trial studies
This registry aims to establish a comprehensive database of patients suspected or confirmed to have 24-hydroxylase deficiency, focusing on those with CYP24A1 mutations. By collecting detailed clinical data, the registry will facilitate further research into the diagnosis and treatment of this rare condition. It represents the first known effort to systematically gather information on this disorder, with the goal of improving patient outcomes through enhanced understanding and collaboration among clinicians and researchers at Mayo Clinic.
Who should consider this trial
Good fit: Ideal candidates include patients who have undergone genetic testing for CYP24A1 mutations and exhibit specific clinical criteria related to urinary stone disease or metabolic bone disease.
Not a fit: Patients who have tested negative for CYP24A1 mutations or have alternative diagnoses explaining their symptoms may not benefit from this registry.
Why it matters
Potential benefit: If successful, this registry could lead to improved diagnosis and treatment options for patients with 24-hydroxylase deficiency.
How similar studies have performed: This registry is the first of its kind for 24-hydroxylase deficiency, and while similar registries have been successful in other rare conditions, this specific approach is novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Rochester, Minnesota
- Mayo Clinic — Rochester, Minnesota, United States (Recruiting)
Study contacts
- Principal investigator: David Sas, MD — Mayo Clinic
- Study coordinator: Barb M Seide, CCRP
- Email: seide.barbara@mayo.edu
- Phone: 507-255-0387
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.