Study of Homocysteine Metabolism in Homocystinuria

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00004356
Recruitment Status : Completed
First Posted : October 19, 1999
Last Update Posted : June 24, 2005
University of California, San Diego
Information provided by:
Office of Rare Diseases (ORD)

Brief Summary:

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 or disease

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.

Study Type : Observational
Enrollment : 60 participants
Primary Purpose: Screening
Study Start Date : February 1995
Study Completion Date : October 2000

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes


--Disease Characteristics--

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00004356

Sponsors and Collaborators
National Center for Research Resources (NCRR)
University of California, San Diego
Study Chair: Bruce Barshop University of California, San Diego

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. Identifier: NCT00004356     History of Changes
Other Study ID Numbers: 199/11920
First Posted: October 19, 1999    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: December 2001

Keywords provided by Office of Rare Diseases (ORD):
inborn errors of metabolism
rare disease

Additional relevant MeSH terms:
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Connective Tissue Diseases
Metabolic Diseases