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Sponsors and Collaborators: |
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Washington University School of Medicine |
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Information provided by: | Office of Rare Diseases (ORD) |
ClinicalTrials.gov Identifier: | NCT00004348 |
OBJECTIVES:
I. Characterize inheritance patterns of mutations in patients with beta-oxidation disorders.
Condition |
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Beta-Oxidation Disorder Peroxisomal Disorders |
Study Type: | Observational |
Study Design: | Screening |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
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
Study ID Numbers: | 199/11907, WUSM-880075R |
Study First Received: | October 18, 1999 |
Last Updated: | June 23, 2005 |
ClinicalTrials.gov Identifier: | NCT00004348 History of Changes |
Health Authority: | United States: Federal Government |
beta-oxidation disorder inborn errors of metabolism rare disease |
Metabolism, Inborn Errors Metabolic Diseases Genetic Diseases, Inborn Peroxisomal Disorders Rare Diseases |
Central Nervous System Diseases Brain Diseases, Metabolic, Inborn Brain Diseases Metabolic Disorder Brain Diseases, Metabolic |
Metabolism, Inborn Errors Metabolic Diseases Pathologic Processes Disease Genetic Diseases, Inborn Peroxisomal Disorders |
Nervous System Diseases Central Nervous System Diseases Brain Diseases, Metabolic, Inborn Brain Diseases Brain Diseases, Metabolic |