Study of Protein Translocation in Patients With Beta-Oxidation Disorders

Peroxisomal Disorders Clinical Trial

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00004348
• Other study ID #: 199/11907
• Secondary ID: WUSM-880075RR37D
• Status: Completed
• Start date: September 1995
• Est. completion date: March 31, 1998

Study information

• Verified date: September 2021
• Source: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

OBJECTIVES:

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 20
• Est. completion date: March 31, 1998
• Est. primary completion date: March 31, 1998
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Beta-Oxidation Disorder
• Disease
• Peroxisomal Disorders

Locations

Country	Name	City	State
n/a

Sponsors (2)

Lead Sponsor	Collaborator
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)	Washington University School of Medicine

References & Publications (20)

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. — View Citation

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. — View Citation

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. — View Citation

Eder M, Kräutle 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. — View Citation

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. — View Citation

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. — View Citation

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

Kelly DP, Strauss AW. Inherited cardiomyopathies. N Engl J Med. 1994 Mar 31;330(13):913-9. — View Citation

Kieweg V, Kräutle 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. — View Citation

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. Erratum in: J Biol Chem. 1995 Oct 13;270(41):24622. — View Citation

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. — View Citation

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. — View Citation

Strauss AW, Jelly DP: The molecular basis of cardiomyopathies due to genetic deficiencies of mitochondrial proteins. pp 323-342.

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

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. — View Citation

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

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. — View Citation

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

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. — View Citation

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. — View Citation

* Note: There are 20 references in all — Click here to view all references