Investigation of treatment for people with liver disease who were born with a birth defect inherited from their parents which means that their body cannot make normal bile acids, which help the body break down and use the fat and vitamins from the foods we eat

Conditions: Patients with inborn errors of bile acid synthesis and metabolism
MedDRA version: 14.0Level: PTClassification code 10070882Term: Inborn error in primary bile acid synthesisSystem Organ Class: 10010331 - Congenital, familial and genetic disorders
Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]

Registration Number: EUCTR2011-004259-38-Outside-EU/EEA

Lead Sponsor: Asklepion Pharmaceuticals, LLC

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: A

Sex: All

Target Recruitment: 82

Inclusion Criteria

• 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.

Are the trial subjects under 18? yes
Number of subjects for this age range: 82
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 1
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

• Patients with other organ dysfunction were not excluded (if Inclusion criteria were otherwise met)

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Main Objective: 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;Secondary Objective: To assess the safety and tolerability of cholic acid for such treatment. ;Primary end point(s): Determination of urinary bile acids by mass spectrometry at 12 months.;Timepoint(s) of evaluation of this end point: 12 months

Secondary Outcome Measures

Name	Time	Method
Secondary end point(s): • Change in liver function tests (serum transaminases)<br>• Change in liver histology (for patients in whom biopsy was performed)<br>• Safety assessment, including assessment of weight gain<br>;Timepoint(s) of evaluation of this end point: Not applicable