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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00007020
Recruitment Status : Completed
First Posted : December 7, 2000
Last Update Posted : May 6, 2015
Children's Hospital Medical Center, Cincinnati
Information provided by (Responsible Party):
Retrophin, Inc.

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

Condition or disease Intervention/treatment Phase
Infantile Refsum's Disease Zellweger Syndrome Adrenoleukodystrophy Peroxisomal Disorders Cholestasis Drug: Cholic Acids Phase 3

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

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 79 participants
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (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
Study Start Date : January 1992
Actual Primary Completion Date : December 2009
Actual Study Completion Date : December 2009

Arm Intervention/treatment
Cholic Acid Drug: Cholic Acids
10-15 mg/kg body weight/day taken orally.
Other Names:
  • Cholic
  • Cholic Acid
  • Cholic Acid Capsules

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

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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00007020

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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
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Principal Investigator: James Heubi, MD Children's Hospital Medical Center, Cincinnati
Principal Investigator: Kenneth Setchell, PhD Children's Hospital Medical Center, Cincinnati
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Retrophin, Inc. Identifier: NCT00007020    
Other Study ID Numbers: CAC-91-10-10
CCHMC-91-10-10 ( Other Identifier: Cincinnati Children's Hospital Medical Center )
First Posted: December 7, 2000    Key Record Dates
Last Update Posted: May 6, 2015
Last Verified: April 2015
Additional relevant MeSH terms:
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Zellweger Syndrome
Refsum Disease
Refsum Disease, Infantile
Peroxisomal Disorders
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
Liver Diseases