24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
Recruiting
Observational Study
24-hydroxylase Deficiency
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 600 (estimated)
- Sponsor
- Mayo Clinic · Other
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About This Trial
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.
Trial Locations
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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 …
Contacts