Study of Protein Translocation in Patients With Beta-Oxidation Disorders
This trial is active, not recruiting.
|Conditions||beta-oxidation disorder, peroxisomal disorders|
|Sponsor||National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)|
|Collaborator||Washington University School of Medicine|
|Start date||September 1995|
|Trial size||20 participants|
|Trial identifier||NCT00004348, 199/11907, WUSM-880075R|
I. Characterize inheritance patterns of mutations in patients with beta-oxidation disorders.
Male or female participants of any age.
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
|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.|
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