24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: 24-hydroxylase Deficiency. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Detailed description
In this registry we propose to establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency in an effort to collect data for further investigation. This would be the first and only known registry of its kind. These resources would be made widely available to clinicians and research scientists within Mayo to stimulate advances in the diagnosis and treatment of patients with this disease.
Primary outcome measures
- establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency [Time frame: yearly]
Secondary outcome measures (1)
- Improved understanding of symptoms and progression of this disease [Time frame: yearly]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Mayo Clinic — Rochester
Identifiers
NCT: NCT03478761 · 17-003972