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The Antibiotic Rifampin to Reduce High Levels of Blood and Urine Calcium in IIH

NCT03384121 · Status: UNKNOWN · Phase: PHASE1 · Type: INTERVENTIONAL · Enrollment: 5

Last updated 2021-08-31

No results posted yet for this study

Summary

Idiopathic infantile hypercalcemia(IIH) is a rare,genetic disorder of mineral metabolism. Biallelic loss of functions mutations of CYP24A1, the gene encoding the 24-hydroxylase enzyme that represents the principal pathway for inactivation of vitamin D metabolites, cause the most common and severe form of IIH.Investigators have preliminary data supporting a novel therapeutic approach to suggest rifampin as an investigational drug to induce over-expression of CYP3A4, an important enzyme that provides an alternate catabolic pathway for inactivation of vitamin D metabolites. In this study, investigators will recruit 5 patients with biallelic inactivating mutations of CYP24A1. Participants will be followed prospectively for a total 6-11 months. This will include 2 months of observation, 2 months of receiving the starting dose of rifampin, followed by 2 month washout phase. Efficacy of the starting dose of rifampin will be determined prior to proceeding only in non responders to the escalation dose of rifampin 10mg/kg/day.

Conditions

  • Idiopathic Infantile Hypercalcemia - Mild Form

Interventions

DRUG

Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension

Starting Dose (V2): 5 mg/kg/day (max 600mg/day) orally for 2 months followed by a 2 month washout period V4: After washout period, only Non-responders will escalate dose to 10 mg/kg/day (max 600mg/day) orally for 2 months

Sponsors & Collaborators

  • Children's Hospital of Philadelphia

    collaborator OTHER

  • Canadian Institutes of Health Research (CIHR)

    collaborator OTHER_GOV

  • Cures Within Reach

    collaborator OTHER

  • The Hospital for Sick Children

    lead OTHER

Principal Investigators

  • Etienne Sochett, MD · The Hospital for Sick Children

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
6 Months
Max Age
17 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-02-22
Primary Completion
2021-12-31
Completion
2021-12-31

Countries

  • Canada

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03384121 on ClinicalTrials.gov