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Rifampin for Hypercalcemia and Hypercalciuria in CYP24A1 Gene Mutations

This study is looking at how well rifampin works to treat high calcium levels in the blood (hypercalcemia) and/or high calcium levels in the urine (hypercalciuria) in people who have a specific genetic change in the CYP24A1 gene. You could be eligible if you are between 6 months and 65 years old, have this genetic change, and have high calcium levels. The study will measure your blood calcium, parathyroid hormone (a hormone that regulates calcium), and calcium in your urine to see if rifampin helps. The study plans to enroll 60 participants, but its current status is unclear.

Study design
This is an interventional study that plans to enroll 60 participants. It is an open-label study, meaning both you and the study team will know you are receiving rifampin.
What's involved
You would receive rifampin daily for a total of 16 weeks, starting with a lower dose for 8 weeks and then a higher dose for another 8 weeks. There will also be 8 weeks of observation before treatment and 8 weeks after treatment.
Compensation
Not stated in the trial record.
Follow-up
Your blood and urine calcium levels will be measured for up to 32 weeks after the study begins.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT03301038

Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria

Recruiting
PHASE2Ages 6–65InterventionalTreatment
Children's Hospital of Philadelphia
~60 participants
Updated 2026-06-22 on ClinicalTrials.gov
What's tested:Rifampin

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Serum albumin-adjusted calcium
Measured over up to 32 weeks
+2 more outcomes measured

Conditions

Idiopathic Infantile Hypercalcaemia - Severe Form
Genetic Disease
Hypercalcemia, Idiopathic, of Infancy
Hypercalciuric Hypercalcemia
Idiopathic Infantile Hypercalcemia - Mild Form
Hypercalciuria

Explore related trials

HypercalcemiaHypercalciuriaIdiopathic hypercalcemia of infancyNephrocalcinosisCYP24A1 Gene

NCT03301038

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvaniastudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Michael A Levine, MD · PRINCIPAL_INVESTIGATOR · Children'sHospital of Philadelphia

Who to contact

Michael A Levine, MD
[email protected]
267-426-3907
Email the study team

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Eligibility criteria

Inclusion

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

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

What this trial measures

  • Serum albumin-adjusted calciumup to 32 weeks

    Measured at baseline and every 4 weeks

  • Serum parathyroid hormoneup to 32 weeks

    Measured at baseline and every 4 weeks

  • Urinary calcium excretionup to 32 weeks

    Measured at baseline and every 4 weeks