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Study of Protein Translocation in Patients With Beta-Oxidation Disorders

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ClinicalTrials.gov Identifier: NCT00004348
Recruitment Status : Unknown
Verified January 2000 by Office of Rare Diseases (ORD).
Recruitment status was:  Active, not recruiting
First Posted : October 19, 1999
Last Update Posted : June 24, 2005
Information provided by:

Study Description
Brief Summary:


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

Condition or disease
Beta-Oxidation Disorder Peroxisomal Disorders

Detailed Description:


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

Study Design

Study Type : Observational
Estimated Enrollment : 20 participants
Primary Purpose: Screening
Study Start Date : September 1995

Groups and Cohorts

Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No


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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00004348

Sponsors and Collaborators
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Washington University School of Medicine
Study Chair: Arnold W. Strauss Washington University School of Medicine
More Information

Strauss AW, Jelly DP: The molecular basis of cardiomyopathies due to genetic deficiencies of mitochondrial proteins. pp 323-342.
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
First Posted: October 19, 1999    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: January 2000

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

Additional relevant MeSH terms:
Peroxisomal Disorders
Pathologic Processes
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases