Study of Protein Translocation in Patients With Beta-Oxidation Disorders - Full Text View

Sponsors and Collaborators:	National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Washington University School of Medicine
Information provided by:	Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier:	NCT00004348

Purpose

OBJECTIVES:

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

Condition
Beta-Oxidation Disorder Peroxisomal Disorders

Genetics Home Reference related topics: beta-ketothiolase deficiency succinic semialdehyde dehydrogenase deficiency

U.S. FDA Resources

Study Type:	Observational
Study Design:	Screening

Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment:	20
Study Start Date:	September 1995

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.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004348

Sponsors and Collaborators

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Washington University School of Medicine

Investigators

Study Chair:

Arnold W. Strauss

Washington University School of Medicine

More Information

Publications:

Wiedermann BL. Acellular pertussis vaccines: what lies ahead? Contemp Pediatr. 1995 Sep;12(9):25-8, 30, 32 passim. Review.

Strauss AW: Defects of mitochondrial proteins and pediatric heart disease. Progress in Pediatric Cardiology 6: 83-90, 1996.

Isaacs JD Jr, Sims HF, Powell CK, Bennett MJ, Hale DE, Treem WR, Strauss AW. Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele. Pediatr Res. 1996 Sep;40(3):393-8.

Strauss AW, Powell CK, Hale DE, Anderson MM, Ahuja A, Brackett JC, Sims HF. Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc Natl Acad Sci U S A. 1995 Nov 7;92(23):10496-500.

Brackett JC, Sims HF, Rinaldo P, Shapiro S, Powell CK, Bennett MJ, Strauss AW. Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. J Clin Invest. 1995 May;95(5):2076-82.

Payne RM, Johnson MC, Grant JW, Strauss AW. Toward a molecular understanding of congenital heart disease. Circulation. 1995 Jan 15;91(2):494-504. Review.

Strauss AW, Johnson MC. The genetic basis of pediatric cardiovascular disease. Semin Perinatol. 1996 Dec;20(6):564-76. Review.

Johnson MC, Payne RM, Grant JW, Strauss AW. The genetic basis of paediatric heart disease. Ann Med. 1995 Jun;27(3):289-300. Review.

Leone TC, Cresci S, Carter ME, Zhang Z, Lala DS, Strauss AW, Kelly DP. The human medium chain Acyl-CoA dehydrogenase gene promoter consists of a complex arrangement of nuclear receptor response elements and Sp1 binding sites. J Biol Chem. 1995 Jul 7;270(27):16308-14.

Weinberger MJ, Rinaldo P, Strauss AW, Bennett MJ. Intact alpha-subunit is required for membrane-binding of human mitochondrial trifunctional beta-oxidation protein, but is not necessary for conferring 3-ketoacyl-CoA thiolase activity to the beta-subunit. Biochem Biophys Res Commun. 1995 Apr 6;209(1):47-52.

Brackett JC, Sims HF, Steiner RD, Nunge M, Zimmerman EM, deMartinville B, Rinaldo P, Slaugh R, Strauss AW. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. J Clin Invest. 1994 Oct;94(4):1477-83.

Ziadeh R, Hoffman EP, Finegold DN, Hoop RC, Brackett JC, Strauss AW, Naylor EW. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res. 1995 May;37(5):675-8.

Peterson KL, Sergienko EE, Wu Y, Kumar NR, Strauss AW, Oleson AE, Muhonen WW, Shabb JB, Srivastava DK. Recombinant human liver medium-chain acyl-CoA dehydrogenase: purification, characterization, and the mechanism of interactions with functionally diverse C8-CoA molecules. Biochemistry. 1995 Nov 14;34(45):14942-53.

Zhang Z, Zhou Y, Mendelsohn NJ, Bauer GS, Strauss AW. Regulation of the human long chain acyl-CoA dehydrogenase gene by nuclear hormone receptor transcription factors. Biochim Biophys Acta. 1997 Jan 3;1350(1):53-64.

Eder M, Krautle F, Dong Y, Vock P, Kieweg V, Kim JJ, Strauss AW, Ghisla S. Characterization of human and pig kidney long-chain-acyl-CoA dehydrogenases and their role in beta-oxidation. Eur J Biochem. 1997 May 1;245(3):600-7.

Ibdah JA, Tein I, Dionisi-Vici C, Bennett MJ, IJlst L, Gibson B, Wanders RJ, Strauss AW. Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. J Clin Invest. 1998 Sep 15;102(6):1193-9.

Kieweg V, Krautle FG, Nandy A, Engst S, Vock P, Abdel-Ghany AG, Bross P, Gregersen N, Rasched I, Strauss A, Ghisla S. Biochemical characterization of purified, human recombinant Lys304-->Glu medium-chain acyl-CoA dehydrogenase containing the common disease-causing mutation and comparison with the normal enzyme. Eur J Biochem. 1997 Jun 1;246(2):548-56.

Djordjevic S, Dong Y, Paschke R, Frerman FE, Strauss AW, Kim JJ. Identification of the catalytic base in long chain acyl-CoA dehydrogenase. Biochemistry. 1994 Apr 12;33(14):4258-64.

Kelly DP, Strauss AW. Inherited cardiomyopathies. N Engl J Med. 1994 Mar 31;330(13):913-9. No abstract available.

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

Keywords provided by Office of Rare Diseases (ORD):

beta-oxidation disorder
inborn errors of metabolism
rare disease

Study placed in the following topic categories:

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

Additional relevant MeSH terms:

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

ClinicalTrials.gov processed this record on May 07, 2009