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

This study has been completed.
Children's Hospital Medical Center, Cincinnati
Information provided by (Responsible Party):
Retrophin, Inc. Identifier:
First received: December 6, 2000
Last updated: April 15, 2015
Last verified: April 2015


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

Condition Intervention Phase
Infantile Refsum's Disease
Zellweger Syndrome
Peroxisomal Disorders
Drug: Cholic Acids
Phase 3

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
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

Resource links provided by NLM:

Further study details as provided by Retrophin, Inc.:

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

Secondary Outcome Measures:
  • 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 ]

Enrollment: 79
Study Start Date: January 1992
Study Completion Date: December 2009
Primary Completion Date: December 2009 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Cholic Acid Drug: Cholic Acids
10-15 mg/kg body weight/day taken orally.
Other Names:
  • Cholic
  • Cholic Acid
  • Cholic Acid Capsules

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

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No


--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 procedures.
  Contacts and Locations
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Please refer to this study by its identifier: NCT00007020

United States, Ohio
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229-3039
Sponsors and Collaborators
Retrophin, Inc.
Children's Hospital Medical Center, Cincinnati
Principal Investigator: James Heubi, MD Children's Hospital Medical Center, Cincinnati
Principal Investigator: Kenneth Setchell, PhD Children's Hospital Medical Center, Cincinnati
  More Information

Responsible Party: Retrophin, Inc. Identifier: NCT00007020     History of Changes
Other Study ID Numbers: CAC-91-10-10
CCHMC-91-10-10 ( Other Identifier: Cincinnati Children's Hospital Medical Center )
Study First Received: December 6, 2000
Last Updated: April 15, 2015

Additional relevant MeSH terms:
Peroxisomal Disorders
Refsum Disease
Refsum Disease, Infantile
Zellweger Syndrome
Bile Duct Diseases
Biliary Tract Diseases
Digestive System Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Hereditary Central Nervous System Demyelinating Diseases
Demyelinating Diseases
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Metabolism, Inborn Errors
Metabolic Diseases
Adrenal Insufficiency
Adrenal Gland Diseases
Endocrine System Diseases
Hereditary Sensory and Motor Neuropathy processed this record on April 24, 2017