Study of Oral Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis - Tabular View

Tracking Information

First Received Date ^ICMJE

December 6, 2000

Last Updated Date

June 23, 2005

Start Date ^ICMJE

August 2000

Primary Completion Date

Current Primary Outcome Measures ^ICMJE

Original Primary Outcome Measures ^ICMJE

Change History

Complete list of historical versions of study NCT00007020 on ClinicalTrials.gov Archive Site

Current Secondary Outcome Measures ^ICMJE

Original Secondary Outcome Measures ^ICMJE

Descriptive Information

Brief Title ^ICMJE

Study of Oral Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis

Official Title ^ICMJE

Brief Summary

OBJECTIVES:

I. Extend the screening procedures for the identification of patients with inborn errors in bile acid synthesis.

II. Determine the pathophysiology of newly described genetic defects in these patients.

III. Determine the effect of oral cholic acid on the clinical course of these patients.

Detailed Description

PROTOCOL OUTLINE:

Patients receive oral cholic acid and oral chenodeoxycholic acid on Day 1. Bile is collected on Day 2, followed by a percutaneous liver biopsy on Day 3. Patients then receive oral cholic acid beginning on Day 4 and continuing indefinitely.

Study Phase

Study Type ^ICMJE

Observational

Study Design ^ICMJE

Screening

Condition ^ICMJE

Infantile Refsum's Disease
Zellweger Syndrome
Hyperpipecolic Acidemia
Adrenoleukodystrophy
Peroxisomal Disorders
Cholestasis
Bifunctional Enzyme Deficiency

Intervention ^ICMJE

Study Arms / Comparison Groups

Publications *

* 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 ^ICMJE

Completed

Enrollment ^ICMJE

Completion Date

Primary Completion Date

Eligibility Criteria ^ICMJE

PROTOCOL ENTRY CRITERIA:

--Disease Characteristics--

Clinical or biochemical evidence of liver disease, unexplained fat-soluble vitamin malabsorption, or peroxisomal dysfunction that compromises bile acid biosynthesis: Zellweger syndrome, Infantile Refsum's disease, Pseudo-Zellweger syndrome, Neonatal adrenoleukodystrophy, Hyperpipecolic acidemia, or Bifunctional enzyme deficiency

Presenting for evaluation of cholestasis: bilirubin greater than 2 mg/dL OR increased serum bile acids for age

Other organ dysfunction allowed

Gender

Both

Ages

up to 17 Years

Accepts Healthy Volunteers

Contacts ^ICMJE

Contact information is only displayed when the study is recruiting subjects

Location Countries ^ICMJE

United States

Administrative Information

NCT ID ^ICMJE

NCT00007020

Responsible Party

Study ID Numbers ^ICMJE

NCRR-M01RR08084-0009, CHMC-C-91-10-10

Study Sponsor ^ICMJE

National Center for Research Resources (NCRR)

Collaborators ^ICMJE

Children's Hospital Medical Center, Cincinnati

Investigators ^ICMJE

Study Chair:

James Heubi

Children's Hospital Medical Center, Cincinnati

Information Provided By

National Center for Research Resources (NCRR)

Verification Date

December 2003

^ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP