Study of Protein Translocation in Patients With Beta-Oxidation Disorders

The recruitment status of this study is unknown because the information has not been verified recently.
Verified January 2000 by Office of Rare Diseases (ORD).
Recruitment status was  Active, not recruiting
Sponsor:
Collaborator:
Washington University School of Medicine
Information provided by:
Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier:
NCT00004348
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: January 2000
  Purpose

OBJECTIVES:

I. Characterize inheritance patterns of mutations in patients with beta-oxidation disorders.


Condition
Beta-Oxidation Disorder
Peroxisomal Disorders

Study Type: Observational
Study Design: Primary Purpose: Screening

Resource links provided by NLM:


Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment: 20
Study Start Date: September 1995
Detailed Description:

PROTOCOL OUTLINE:

Patients undergo clinical and molecular analysis of beta-oxidation enzyme metabolism. The evaluation includes a urinary metabolite profile, and DNA and familial studies.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

PROTOCOL ENTRY CRITERIA:

Beta-oxidation disorder, including: Medium-chain acyl-coenzyme A dehydrogenase deficiency Long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency Very-long-chain acyl-coenzyme A dehydrogenase deficiency Short-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency Long-chain 3-ketoacyl-coenzyme A thiolase deficiency Trifunctional protein deficiency Patient age: 1 day and over

  Contacts and Locations
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Please refer to this study by its ClinicalTrials.gov identifier: NCT00004348

Sponsors and Collaborators
Washington University School of Medicine
Investigators
Study Chair: Arnold W. Strauss Washington University School of Medicine
  More Information

Publications:
Strauss AW: Defects of mitochondrial proteins and pediatric heart disease. Progress in Pediatric Cardiology 6: 83-90, 1996.

ClinicalTrials.gov Identifier: NCT00004348     History of Changes
Other Study ID Numbers: 199/11907, WUSM-880075R
Study First Received: October 18, 1999
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
beta-oxidation disorder
inborn errors of metabolism
rare disease

Additional relevant MeSH terms:
Peroxisomal Disorders
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases

ClinicalTrials.gov processed this record on August 18, 2014