Recruiting
Phase 2

Rifampin

Sponsor:

Children's Hospital of Philadelphia

Code:

NCT03301038

Conditions

Idiopathic Infantile Hypercalcaemia - Severe Form

Genetic Disease

Hypercalcemia, Idiopathic, of Infancy

Hypercalciuric Hypercalcemia

Idiopathic Infantile Hypercalcemia - Mild Form

Eligibility Criteria

Sex: All

Age: 0 - 65

Healthy Volunteers: Not accepted

Interventions

Rifampin

Study Details

Brief 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.

Conditions

Idiopathic Infantile Hypercalcaemia - Severe Form

Genetic Disease

Hypercalcemia, Idiopathic, of Infancy

Hypercalciuric Hypercalcemia

Idiopathic Infantile Hypercalcemia - Mild Form

Study ID

NCT03301038

Start date

Jul 25, 2018

Status verified date

Jun, 2026

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 65

Healthy Volunteers: Not accepted

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 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

Study Design

Enrollment

60 participants

Anticipated

Intervention Model

Single group

Primary purpose

Treatment

Interventions and Outcome Measures

Arms

experimental: All Subjects

SingleArm: Escalating doses of rifampin (5 and 10 mg/kg/day) (SingleArm)

Interventions

Rifampin

Rifampin 5 mg/kg (max 300 mg) daily for 8 weeks, followed by rifampin 10 mg/kg (max 600 mg) daily for 8 weeks.

Primary outcome measure

  • Serum albumin-adjusted calcium [ Time Frame: up to 32 weeks ]
  • Serum parathyroid hormone [ Time Frame: up to 32 weeks ]
  • Urinary calcium excretion [ Time Frame: up to 32 weeks ]

Central Contacts and Locations

Central contacts

Michael A Levine, MD

267-426-3907levinem@chop.edu

Vashisht Arshanapally

267-426-7482arshanapav@chop.edu

Locations

Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Michael A Levine, MD

267-426-3907levinem@chop.edu

Sara Pinney, MD

215-590-3174PINNEYS@chop.edu

Principal Investigator:

Michael A Levine, MD

More Information

Sponsor

Children's Hospital of Philadelphia

Last update posted

Jun 22, 2026

Last verified

Jun, 2026

Keywords

  • hypercalcemia
  • nephrocalcinosis
  • CYP24A1
  • hypercalciuria

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Children's Hospital of Philadelphia on 2026-06-22.