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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

Sponsor: Children's Hospital of Philadelphia · Participants: 60 · Started: Jul 25, 2018

Contact the study team

Official record on ClinicalTrials.gov — NCT03301038

Locations in the U.S.

PennsylvaniaChildren'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.