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Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
RecruitingPhase 2
Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene
Who can join
6 Months – 65 Years · All sexes
Full eligibility criteria
Inclusion Criteria: * Males or females age 6 months to 65 years. * at least one mutations of CYP24A1 * Serum and/or urinary calcium above the normal reference range for age * Serum PTH concentration \<20 pg/ml * Elevated or normal serum concentration of 1,25-dihydroxyvitamin D3. Exclusion Criteria: * Parents/guardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures. * Allergy to rifampin or related medications * Current therapies with medications that have significant drug-drug interactions with rifampin, defined as a medication considered to interact with CYP3A4 or CYP3A5 and either induce or inhibit expression or function of these P450 enzymes. By "drug-drug" interactions we are looking for medications that will affect metabolism or action of rifampin as exclusionary, not medications that will be affected by rifampin. * Pregnancy or breastfeeding * Laboratory abnormalities that indicate clinically significant hepatic, or renal disease: * Aspartate Aminotransferase (AST/SGOT) \> 2.0 times the upper limit of normal Alanine aminotransferase (ALT/SGPT) \> 2.0 times the upper limit of normal Total bilirubin \> 2.0 times the upper limit of normal Creatinine \> 2.0 times the upper limit of normal
About the study
This study evaluates the efficacy of rifampin in the treatment of hypercalcemia and/or hypercalciuria in participants with at least one inactivating mutation of the CYP24A1 gene. Eligible subjects will receive rifampin for a total of 16 weeks during this study.
What is being tested
- Rifampin (drug)
Sponsor: Children's Hospital of Philadelphia · Participants: 60 · Started: Jul 25, 2018
Contact the study team
- Michael A Levine, MD · Phone: 267-426-3907
- Vashisht Arshanapally · Phone: 267-426-7482
Official record on ClinicalTrials.gov — NCT03301038
Locations in the U.S.
| Pennsylvania | Children's Hospital of Philadelphia, Philadelphia |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.