GlycoCholic Acid Treatment for Patients With Inborn Errors in Bile Acid Synthesis

• Status: Unknown status
• Trial end date: 2020-12-01
• Target enrollment: 0
• Participant gender: All

Summary

The purpose of this research study is to determine the way (mechanisms) by which your defect in bile acid handling (metabolism) causes your liver disease or abnormality in absorption of vitamins and the effect of an investigational bile acid therapy (glycocholic acid) on your vitamin absorption and your liver disease. An investigational therapy is one that not approved by the United States Food and Drug Administration (FDA) and is being provided to you under an Investigational New Drug application from the FDA.

• Phase: Phase 3
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Children's Hospital Medical Center, Cincinnati
• Treatments: Bile Acids and Salts; Cholic Acids; Glycocholic Acid

Criteria

Inclusion Criteria:

1. Confirmation of a diagnosis of an inborn error of bile acid synthesis/conjugation based upon urine analysis by FAB-MS.

2. Any age

3. Participant must be willing and able to comply with study assessments and procedures.

4. The participant and/or parent/legal guardian must have signed the written informed consent document prior to study start.

Exclusion Criteria

1. No confirmed diagnosis of inborn error of bile acid synthesis/conjugation based upon urine analysis by FAB-MS.