RecruitingPhase 2NCT03301038

Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria

Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene


Sponsor

Children's Hospital of Philadelphia

Enrollment

60 participants

Start Date

Jul 25, 2018

Study Type

INTERVENTIONAL

Conditions

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.


Eligibility

Min Age: 6 MonthsMax Age: 65 Years

Inclusion Criteria5

  • 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 Criteria6

  • 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

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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.


Locations(1)

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

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NCT03301038


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