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Study of Protein Translocation in Patients With Beta-Oxidation Disorders

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified January 2000 by Office of Rare Diseases (ORD).
Recruitment status was:  Active, not recruiting
Sponsor:
ClinicalTrials.gov Identifier:
NCT00004348
First Posted: October 19, 1999
Last Update Posted: December 9, 2005
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborator:
Washington University School of Medicine
Information provided by:
Office of Rare Diseases (ORD)
  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

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

Publications:
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
WUSM-880075R
First Submitted: October 18, 1999
First Posted: October 19, 1999
Last Update Posted: December 9, 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:
Disease
Peroxisomal Disorders
Pathologic Processes
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases