UnknownPhase 1

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

Canada5 participantsStarted 2018-02-22

Plain-language 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.

Who can participate

Age range

6 Months – 17 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * all patients between 6 months- 17 years of age with the clinical phenotype of idiopathic infantile hypercalcemia * Biochemical evidence of this disorder: Serum calcium\>upper limit of the reference age for range; high, 1,25 (OH)D; reduced PTH, reduced 24,25(OH)2D, and suppresses 24,1,25 (OH)2D, normal serum creatinine, AST, and ALT with or without * biallelic inactivating mutations of CYP24A1 * mutations in newly published genes which are shown during the course of the study to cause an inappropriate increase in 1,25 (OH)2D Exclusion Criteria: * Allergy to rifampin or related medications * Pregnancy or breastfeeding * Significant cardiac, hepatic, or endocrine comorbidities * Taking any medications/foods known to interact with CYP3A4 or 1,25 (OH)D * Parents or guardians or subjects who in the opinion of the Investigator may be non compliant with study schedules or procedures * Other comorbidities considered unsuitable by the investigator, including TB

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Change in Serum Calcium

Timeframe: 40 weeks

Change in Serum Parathyroid Hormone

Timeframe: 40 weeks

Change in Urinary calcium excretion

Timeframe: 40 weeks

Trial details

NCT IDNCT03384121

SponsorThe Hospital for Sick Children

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2021-12-31

Contact for this trial

Yesmino Elia, MSc

416-813-7654 yesmino.elia@sickkids.ca

View on ClinicalTrials.gov More Idiopathic Infantile Hypercalcemia - Mild Form trials

Plain-language summary

Who can participate

Age range

6 Months – 17 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.