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
Washington University School of Medicine
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: January 2000


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

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:


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


Genders Eligible for Study:   Both
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

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Please refer to this study by its identifier: 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. 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
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Pathologic Processes processed this record on April 27, 2016