Study of Protein Translocation in Patients With Beta-Oxidation Disorders

OBJECTIVES:

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

Completed

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Key information

Conditions

Beta-Oxidation Disorder Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Peroxisomal Disorders Rare Diseases

Age range

1 day and older

Sex eligibility

All sexes

Study type

Observational

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Sponsors and collaborators

Lead sponsor

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Nih

Collaborators

Washington University School of Medicine

Registry information

Important dates

Study start: 1995
Primary completion: 1998
Study completion: 1998
First posted: Oct 19, 1999
Registry last updated: Sep 27, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed