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.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Primary purpose screening

Eligibility Criteria

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

Additional Information

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.
Trial information was received from ClinicalTrials.gov and was last updated in June 2005.
Information provided to ClinicalTrials.gov by Office of Rare Diseases (ORD).