Status:
RECRUITING
Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
Lead Sponsor:
Children's Hospital of Philadelphia
Collaborating Sponsors:
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Conditions:
Idiopathic Infantile Hypercalcaemia - Severe Form
Genetic Disease
Eligibility:
All Genders
6-65 years
Phase:
PHASE2
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 wil...
Detailed Description
Idiopathic infantile hypercalcemia (IIH; omim 143880) is a genetic disorder of mineral metabolism characterized by severe hypercalcemia and/or hypercalciuria, suppressed serum levels of parathyroid ho...
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
Key Trial Info
Start Date :
July 25 2018
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
December 1 2030
Estimated Enrollment :
60 Patients enrolled
Trial Details
Trial ID
NCT03301038
Start Date
July 25 2018
End Date
December 1 2030
Last Update
July 28 2025
Active Locations (1)
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1
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104