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

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

This study has been completed.

Sponsors and Collaborators:	National Center for Research Resources (NCRR) Children's Hospital Medical Center, Cincinnati
Information provided by:	National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:	NCT00007020

Purpose

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.

Condition

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

Genetics Home Reference related topics:

beta-ketothiolase deficiency Charcot-Marie-Tooth disease familial encephalopathy with neuroserpin inclusion bodies hereditary neuropathy with liability to pressure palsies L1 syndrome leukoencephalopathy with vanishing white matter Opitz G/BBB syndrome X-linked adrenoleukodystrophy

MedlinePlus related topics:

Addison's Disease

ChemIDplus related topics:

Cholic acid

U.S. FDA Resources

Study Type:	Observational
Study Design:	Screening

Further study details as provided by National Center for Research Resources (NCRR):

Estimated Enrollment:	21
Study Start Date:	August 2000

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.

Eligibility

Ages Eligible for Study:	up to 17 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00007020

Locations


United States, Ohio
	Children's Hospital Medical Center - Cincinnati
	Cincinnati, Ohio, United States, 45229-3039

Sponsors and Collaborators

National Center for Research Resources (NCRR)

Children's Hospital Medical Center, Cincinnati

Investigators


Study Chair:	James Heubi	Children's Hospital Medical Center, Cincinnati

More Information

Study ID Numbers:	NCRR-M01RR08084-0009, CHMC-C-91-10-10
First Received:	December 6, 2000
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00007020
Health Authority:	United States: Federal Government

Keywords provided by National Center for Research Resources (NCRR):

Zellweger syndrome

adrenoleukodystrophy

bifunctional enzyme deficiency

cholestasis

gastrointestinal disorders

hyperpipecolic acidemia

inborn errors of metabolism

infantile Refsum's disease

peroxisomal disorders

pseudo-Zellweger syndrome

rare disease

sphingolipidoses

Zellweger-Like Syndrome

Study placed in the following topic categories:

Sphingolipidoses

Liver Diseases

Nervous System Malformations

Roussy Levy hereditary areflexic dystasia

Adrenal Gland Diseases

Demyelinating diseases

Hypoadrenalism

Neurodegenerative Diseases

Brain Diseases

Metabolism, Inborn Errors

Heredodegenerative Disorders, Nervous System

Neuromuscular Diseases

Adrenoleukodystrophy

Addison Disease

Brain Diseases, Metabolic, Inborn

Kidney Diseases

Zellweger syndrome

Refsum disease

Adrenal Insufficiency

Metabolic Diseases

Demyelinating Diseases

Endocrine System Diseases

Phytanic acid oxidase deficiency

Mental Retardation

Cholic Acids

Bile Duct Diseases

Metabolic disorder

Brain Diseases, Metabolic

Addison's disease

Gastrointestinal Diseases

Additional relevant MeSH terms:

Pathologic Processes

Disease

Immune System Diseases

Syndrome

Nervous System Diseases

Mental Retardation, X-Linked

Hereditary Central Nervous System Demyelinating Diseases

ClinicalTrials.gov processed this record on September 05, 2008