Study of Homocysteine Metabolism in Homocystinuria

This study has been completed.

First Received: October 18, 1999 Last Updated: June 23, 2005 History of Changes

Sponsors and Collaborators:	National Center for Research Resources (NCRR) University of California, San Diego
Information provided by:	Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier:	NCT00004356

Purpose

OBJECTIVES: I. Determine basal and postmethionine plasma homocysteine in patients with premature vascular disease, cystathionine beta-synthase (CBS) or methylenetitrahydrofolate reductase (MTHFR) deficiency, and in obligate heterozygotes for CBS or MTHFR.

II. Determine whole-body homocysteine metabolic rates with isotopically-labeled methionine.

Condition
Homocystinuria

Genetics Home Reference related topics: argininosuccinic aciduria citrullinemia homocystinuria N-acetylglutamate synthase deficiency ornithine translocase 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:	60
Study Start Date:	February 1995
Estimated Study Completion Date:	October 2000

Detailed Description:

PROTOCOL OUTLINE: This is a two-part study of homocysteine metabolism. Age-matched normal controls are entered in both parts of the study.

In first part of the study, participants are given oral methionine; baseline and postmethionine studies include amino acid quantitation, analysis of rapidly deproteinized plasma, and total plasma homocysteine. In the second part of the study, participants (men and postmenopausal women only) undergo methionine tracer studies.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes

Criteria

PROTOCOL ENTRY CRITERIA:

--Disease Characteristics--

Known or suspected homocystinuria Cystathionine beta-synthase-deficient homocystinuria Obligate heterozygotes for cystathionine beta-synthase deficiency Premature vascular disease

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004356

Sponsors and Collaborators

National Center for Research Resources (NCRR)

University of California, San Diego

Investigators

Study Chair:

Bruce Barshop

University of California, San Diego

More Information

Publications:

Page T, Barshop BA, Yu A, et al.: Treatment of Lesch-Nyhan syndrome with AICAR. In: Sahota A, Tayor M, eds.: Purine and Pyrimidine Metabolism in Man VIII. Plenum Press, New York, NY: 1995, pp 353-356.

Study ID Numbers:	199/11920, UCSD-1033
Study First Received:	October 18, 1999
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00004356 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):

homocystinuria
inborn errors of metabolism
rare disease

Study placed in the following topic categories:

Metabolic Diseases
Amino Acid Metabolism, Inborn Errors
Rare Diseases
Homocystinuria
Central Nervous System Diseases
Brain Diseases
Metabolism, Inborn Errors

Genetic Diseases, Inborn
Inborn Amino Acid Metabolism Disorder
Connective Tissue Diseases
Brain Diseases, Metabolic, Inborn
Metabolic Disorder
Brain Diseases, Metabolic

Additional relevant MeSH terms:

Metabolism, Inborn Errors
Metabolic Diseases
Genetic Diseases, Inborn
Amino Acid Metabolism, Inborn Errors
Nervous System Diseases
Connective Tissue Diseases

Central Nervous System Diseases
Homocystinuria
Brain Diseases, Metabolic, Inborn
Brain Diseases
Brain Diseases, Metabolic

ClinicalTrials.gov processed this record on May 07, 2009