A study comparing cholic acid capsules that are not currently available, with cholic acid capsules that are currently available, to check that they are as safe and work just as well in treating children born with a birth defect inherited from their parents, which means that their body cannot make normal bile acids

• 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: EUCTR2011-004491-10-Outside-EU/EEA
• Lead Sponsor: Asklepion Pharmaceuticals, LLC

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2011-10-06
• Last Update Posted: 19 March 2012

Recruitment & Eligibility

• Status: A
• Sex: All
• Target Recruitment: 16

Inclusion Criteria

•The patient must have stable transaminase levels within 2 times the upper limits of the normal range.
•The patient must have a diagnosis of an inborn error of bile acid synthesis.
•The patient and/or parent/legal guardian must have signed the written informed consent document before study start.
•Assent must be obtained from eligible children greater than age 7 years
•The patient must be currently receiving CU cholic acid therapy under IND 45,470.
• The patient must be willing and able to comply with all study assessments and procedures.
•The patient must be able to make two visits (Visit 1 and Visit 2) to the study site (CCHMC).

Are the trial subjects under 18? yes
Number of subjects for this age range: 16
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

None

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 TBM cholic acid capsules compared with the effect of the CU formulation of cholic acid prepared in the CCHMC Pharmacy. ;Secondary Objective: Safety and tolerability monitoring compared with baseline. ;Primary end point(s): Therapeutic effect of commercial cholic acid capsules compared with the CCHMC capsules on:<br>-serum transaminases and<br>-regulation of the synthesis of atypical bile acids. <br>Assessment at day 0 and day 30, as measured by urine and serum bile acid analysis using mass spectrometry.;Timepoint(s) of evaluation of this end point: day 0 and day 30

Secondary Outcome Measures

Name	Time	Method
Secondary end point(s): Safety and tolerability of TBM cholic acid capsules<br><br>Malabsorption assessment including measurements of vitamin A, E, and D, and prothrombin time;Timepoint(s) of evaluation of this end point: Adverse event reporting from parents at days 0, 14 (by telephone) and 30.<br>