Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria

Description

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, Hypercalciuria

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Study Overview

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Study Details

Study overview

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.

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

Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria

Condition
Idiopathic Infantile Hypercalcaemia - Severe Form
Intervention / Treatment

-

Contacts and Locations

Philadelphia

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States, 19104

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • * 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:

Ages Eligible for Study

6 Months to 65 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Children's Hospital of Philadelphia,

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

Study Record Dates

2030-12