Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
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
Infantile Refsum's Disease
Drug: Cholic Acids
|Study Design:||Allocation: Non-Randomized
Endpoint Classification: Safety/Efficacy Study
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|
- Determination of changes in synthesis of atypical bile acids in urine by mass spectrometry (FAB MS) [ Time Frame: 12 months ] [ Designated as safety issue: No ]
- Change in Liver Function Test (serum transaminases) [ Time Frame: Standard of Care ] [ Designated as safety issue: No ]
- Change in Liver Histology (for patients in whom biopsy was performed) [ Time Frame: Standard of Care ] [ Designated as safety issue: No ]
- Safety Assessments (Incidence and Severity of Adverse Events) [ Time Frame: Each visit as standard of care ] [ Designated as safety issue: Yes ]
- Height and Weight [ Time Frame: Standard of Care ] [ Designated as safety issue: No ]
|Study Start Date:||January 1992|
|Study Completion Date:||December 2009|
|Primary Completion Date:||December 2009 (Final data collection date for primary outcome measure)|
Drug: Cholic Acids
10-15 mg/kg body weight/day taken orally.
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:
- Administration of study drug.
- Collection of baseline physical exam, vital signs, blood and urine samples for laboratory tests.
- Collection of periodic physical exam, vital signs, blood and urine samples for laboratory tests during the period of administration of the study drug.
- Collection of any adverse event information.
Time and Events Schedule:
- Confirm eligibility
- Obtain written informed consent from patient and/or parents/legal guardian
Collect demographic data and disease and medication history, including family history
Baseline and Ongoing:
- Obtain body weight
- Record adverse events
- Obtain blood and urine samples for laboratory tests
- Initiate study drug therapy & monitor study drug therapy and adjust dose as needed
|United States, Ohio|
|Cincinnati Children's Hospital Medical Center|
|Cincinnati, Ohio, United States, 45229-3039|
|Principal Investigator:||James Heubi, MD||Children's Hospital Medical Center, Cincinnati|
|Principal Investigator:||Kenneth Setchell, PhD||Children's Hospital Medical Center, Cincinnati|