24-hydroxylase DeficiencyGeneticsRare disease
What this study is
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.
Study details
- Sponsor
- Mayo Clinic
- Conditions
- 24-hydroxylase Deficiency
- Enrolling
- 600 people
- Starts
- 2017-10-19
- Est. completion
- 2030-12
- Record
- View on ClinicalTrials.gov ↗
Who can join
Sex ALLHealthy volunteers Not acceptedYou may qualify if
- 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
You can't join if
- 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
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
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1
Study locations (1)
1 openMayo Clinic
Rochester, Minnesota, United States
- Barbara M Seide, CCRP · Contact800-270-4637rarekidneystones@mayo.edu
- Carly Banks, CCRP · Contact800-270-4637rarekidneystones@mayo.edu
Recruiting
Study team
Sponsor
Mayo Clinic
Study ID 17-003972
Principal investigator
David Sas, MD
Mayo Clinic
Study director
Peter Tebben, MD
Mayo Clinic
Have questions? The contacts above can answer them before you apply.
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.