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

Brief Title

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

Official Title

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

Brief Summary


      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

Detailed Description

      Investigational Plan:

      A Phase III, open label, single arm, nonrandomized, non-comparative, compassionate treatment
      study of cholic acid in the treatment of defects of bile acid metabolism.

      The study was begun with a single study site at Cincinnati Children's Hospital Medical Center
      (CCHMC), but in 2005 was expanded so that compassionate treatment could be provided to
      additional patients who had been identified with inborn errors of bile metabolism through the
      center's screening/diagnostic program.

      Patients who were screened were contacted and evaluated with respect to the
      inclusion/exclusion criteria. Signed informed consent by the patient and/or parents/legal
      guardian was obtained as soon as it is confirmed that the patient met inclusion/exclusion
      criteria and the parents/guardian would agree for the child to participate in the study.

      The primary interventions for the study were:

        1. Administration of study drug.

        2. Collection of baseline physical exam, vital signs, blood and urine samples for
           laboratory tests.

        3. Collection of periodic physical exam, vital signs, blood and urine samples for
           laboratory tests during the period of administration of the study drug.

        4. Collection of any adverse event information.

      Time and Events Schedule:


        1. Confirm eligibility

        2. Obtain written informed consent from patient and/or parents/legal guardian

        3. Collect demographic data and disease and medication history, including family history

           Baseline and Ongoing:

        4. Obtain body weight

        5. Record adverse events

        6. Obtain blood and urine samples for laboratory tests

        7. Initiate study drug therapy & monitor study drug therapy and adjust dose as needed

Study Phase

Phase 3

Study Type


Primary Outcome

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

Secondary Outcome

 Change in Liver Function Tests (LFTs) Measured in Serum


Infantile Refsum's Disease


Cholic Acids

Study Arms / Comparison Groups

 Cholic Acid


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

January 1992

Completion Date

December 2009

Primary Completion Date

December 2009

Eligibility 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




N/A - N/A

Accepts Healthy Volunteers



James Heubi, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Secondary IDs


Responsible Party


Study Sponsor

Travere Therapeutics, Inc.


 Children's Hospital Medical Center, Cincinnati

Study Sponsor

James Heubi, MD, Principal Investigator, Children's Hospital Medical Center, Cincinnati

Verification Date

September 2020