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.
Males or females age 6 months to 70 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
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
Single group
Rifampin
DrugRifampin 5 mg/kg (max 300 mg) daily for 8 weeks, followed by rifampin 10 mg/kg (max 600 mg) daily for 8 weeks.
Serum albumin-adjusted calcium
Measured at baseline and every 4 weeks
Serum parathyroid hormone
Measured at baseline and every 4 weeks
Urinary calcium excretion
Measured at baseline and every 4 weeks
Intestinal calcium absorption
Measured using stable calcium isotopes five times during the study
Nephrocalcinosis
Renal ultrasound performed before and after treatment
Rifampin pharmacokinetics
Measured three times during the study
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Children's Hospital of Philadelphia
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Collaborator
