Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene
Children's Hospital of Philadelphia
Summary
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.
Description
Idiopathic infantile hypercalcemia (IIH; omim 143880) is a genetic disorder of mineral metabolism characterized by severe hypercalcemia and/or hypercalciuria, suppressed serum levels of parathyroid hormone (PTH) and elevated levels of the active vitamin D metabolite, 1,25(OH)2D. Biallelic inactivating mutations of CYP24A1, the gene encoding the 24-hydroxylase enzyme that represents the principal pathway for inactivation of vitamin D metabolites, cause the most common and severe form of IIH. Investigators have preliminary data supporting a novel therapeutic approach to repurpose rifampin as an…
Eligibility
- Age range
- 0–65 years
- Sex
- All
- Healthy volunteers
- No
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 c…
Interventions
- DrugRifampin
Rifampin 5 mg/kg (max 300 mg) daily for 8 weeks, followed by rifampin 10 mg/kg (max 600 mg) daily for 8 weeks.
Location
- Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvania