Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria

• Status: Recruiting
• Trial end date: 2030-12-01
• Target enrollment: 0
• Participant gender: All

Summary

This study evaluates the efficacy of rifampin in the treatment of hypercalcemia and/or hypercalciuria in participants with biallelic inactivating mutations of the CYP24A1 gene. Eligible subjects will receive rifampin for a total of 16 weeks during this study.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Children's Hospital of Philadelphia
• Collaborator: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Treatments: Rifampin

Criteria

Inclusion Criteria:

• Males or females age 6 months to 60 years.

• Biallelic 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 or foods that are considered by the research team to potentially affect mineral metabolism, alter clearance of rifampin, or inhibit CYP3A4.

• Pregnancy or breastfeeding

• Laboratory abnormalities that indicate clinically significant hepatic, or renal disease:

AST/SGOT > 2.0 times the upper limit of normal 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