CompletedPhase 3

Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid

United States85 participantsStarted 1992-01

Plain-language summary

OBJECTIVES: I. To Evaluate the therapeutic efficacy of cholic acid during provision of compassionate treatment to patients with identified inborn errors of bile acid synthesis and metabolism II. To assess the safety and tolerability of cholic acid

Who can participate

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.

PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- Clinical or biochemical evidence of liver disease, unexplained fat-soluble vitamin malabsorption, or peroxisomal dysfunction that compromises bile acid biosynthesis Inclusion criteria for enrollment were: * Infants \< age 3 months * Children presenting for evaluation of cholestasis defined as a conjugated bilirubin \> 2mg/dl or increased serum bile acids * Older subjects of any age with cholestatic liver disease if urine screens suggested that they had inborn errors of bile acid metabolism * Confirmation of a diagnosis of an inborn error of bile acid synthesis based upon urine analysis by FAB-MS to determine whether specific abnormalities in bile acid synthesis are indicated * The patient and/or parent/legal guardian must have signed the written informed consent document before study start. * The patient must be willing and able to comply with all study assessments and procedures.

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

Number of Participants With Excretion of Atypical Bile Acids in Urine by Category

Timeframe: Baseline, then every 1, 3, or 6 months (depending on protocol version) for an average of 2.8 years

Trial details

NCT IDNCT00007020

SponsorMirum Pharmaceuticals, Inc.

Sponsor typeINDUSTRY

Study typeINTERVENTIONAL

Primary completion2009-12

Results submitted2019-04-12

View on ClinicalTrials.gov More Infantile Refsum's Disease trials

Who can participate

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.