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Study of Oral Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis
This study has been completed.
First Received: December 6, 2000   Last Updated: June 23, 2005   History of Changes
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

Study Type: Observational
Study Design: Screening

Resource links provided by NLM:


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

No publications provided

Study ID Numbers: NCRR-M01RR08084-0009, CHMC-C-91-10-10
Study First Received: December 6, 2000
Last Updated: June 23, 2005
ClinicalTrials.gov Identifier: NCT00007020     History of Changes
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
Adrenal Gland Diseases
Hypoadrenalism
Neurodegenerative Diseases
Brain Diseases
X-linked Adrenoleukodystrophy
Metabolism, Inborn Errors
Heredodegenerative Disorders, Nervous System
Neuromuscular Diseases
Adrenoleukodystrophy
Refsum Disease, Infantile Form
Addison Disease
Brain Diseases, Metabolic, Inborn
Kidney Diseases
Metabolic Disorder
Adrenal Insufficiency
Metabolic Diseases
Demyelinating Diseases
Charcot Marie Tooth Disease
Endocrine System Diseases
Tomaculous Neuropathy
Mental Retardation
Cholic Acids
Bile Duct Diseases
Mental Retardation, X-Linked
Brain Diseases, Metabolic
Addison's Disease
Roussy Levy Hereditary Areflexic Dystasia

Additional relevant MeSH terms:
Liver Diseases
Cholestasis
Nervous System Malformations
Refsum Disease, Infantile
Adrenal Gland Diseases
Brain Diseases
Neurodegenerative Diseases
Hereditary Central Nervous System Demyelinating Diseases
Metabolism, Inborn Errors
Pathologic Processes
Heredodegenerative Disorders, Nervous System
Urologic Diseases
Neuromuscular Diseases
Peroxisomal Disorders
Refsum Disease
Biliary Tract Diseases
Adrenoleukodystrophy
Syndrome
Hereditary Motor and Sensory Neuropathies
Genetic Diseases, X-Linked
Abnormalities, Multiple
Addison Disease
Kidney Diseases
Brain Diseases, Metabolic, Inborn
Congenital Abnormalities
Neurobehavioral Manifestations
Adrenal Insufficiency
Autoimmune Diseases
Disease
Metabolic Diseases

ClinicalTrials.gov processed this record on July 02, 2009