Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism

CAC-91-10-10

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

1992-01-01

2009-12-01

2009-12-01

Completed

Early phase I

85

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.

{'studyType': 'INTERVENTIONAL', 'phases': ['PHASE3'], 'designInfo': {'allocation': 'NA', 'interventionModel': 'SINGLE_GROUP', 'primaryPurpose': 'TREATMENT', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'count': 85, 'type': 'ACTUAL'}}

2023-10-03