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Study of Protein Translocation in Patients With Beta-Oxidation Disorders



Study of Protein Translocation in Patients With Beta-Oxidation Disorders

For Condition: Beta-Oxidation Disorder,Peroxisomal Disorders
Status: No longer recruiting
Sponsor(s): National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) , Washington University School of Medicine
Synopsis: OBJECTIVES: I. Characterize inheritance patterns of mutations in patients with beta-oxidation disorders.
Details: 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:
Study Type:
  Observational, Screening
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry 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
Total Enrollment: 20

Location and Contact Information:

Overall Study Official:
ArnoldStrauss,  Study Chair,  Washington University School of Medicine


Additional Information:
Study ID Numbers:
  199/11907;  WUSM-880075R
Study Start Date: September 1995
Record last reviewed: January 2000
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00004348

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