Using rifampin to treat hypercalcemia in patients with CYP24A1 mutations

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study evaluates the effectiveness of rifampin in treating hypercalcemia and hypercalciuria in individuals with at least one inactivating mutation of the CYP24A1 gene. Participants aged 6 months to 65 years will receive rifampin for 16 weeks after an initial 8-week observation period, followed by an additional 8 weeks of monitoring. The study aims to assess the drug's impact on calcium homeostasis and its pharmacokinetics in this specific genetic condition. The approach is based on preliminary data suggesting that rifampin may enhance the metabolism of vitamin D metabolites through the induction of specific liver enzymes.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* 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
* 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

Where it's running

• Children's Hospital of Philadelphia
  Philadelphia, Pennsylvania, United States Recruiting

Study contacts

• Principal investigator: Michael A Levine, MD — Children'sHospital of Philadelphia
• Study coordinator: Michael A Levine, MD
• Email: levinem@chop.edu
• Phone: 267-426-3907

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.