Study of Protein Translocation in Patients With Beta-Oxidation Disorders

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00004348

Enrollment

Registered

1999-10-19

Start date

1995-09-30

Completion date

1998-03-31

Last updated

2021-09-27

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Beta-Oxidation Disorder, Peroxisomal Disorders

Keywords

beta-oxidation disorder, inborn errors of metabolism, rare disease

Brief summary

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

Detailed 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

1 Days to No maximum

Healthy volunteers

Inclusion 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

Outcome results