Clinical Trial: Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism." This Study Was Previously Registered by the NCRR and Identified as NCRR-M01RR08084-0009

Brief Summary:

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


Detailed Summary:

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:

Baseline:

  1. Confirm eligibility
  2. Obtain written informed consent from patient and/or parents/legal guar
    Sponsor: Retrophin, Inc.

    Current Primary Outcome: Determination of changes in synthesis of atypical bile acids in urine by mass spectrometry (FAB MS) [ Time Frame: 12 months ]

    Original Primary Outcome:

    Current Secondary Outcome:

    • Change in Liver Function Test (serum transaminases) [ Time Frame: Standard of Care ]
    • Change in Liver Histology (for patients in whom biopsy was performed) [ Time Frame: Standard of Care ]
    • Safety Assessments (Incidence and Severity of Adverse Events) [ Time Frame: Each visit as standard of care ]
    • Height and Weight [ Time Frame: Standard of Care ]


    Original Secondary Outcome:

    Information By: Retrophin, Inc.

    Dates:
    Date Received: December 6, 2000
    Date Started: January 1992
    Date Completion:
    Last Updated: April 15, 2015
    Last Verified: April 2015