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Sponsors and Collaborators: |
National Center for Research Resources (NCRR) University of California, San Diego |
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Information provided by: | Office of Rare Diseases (ORD) |
ClinicalTrials.gov Identifier: | NCT00004356 |
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 |
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Homocystinuria |
Study Type: | Observational |
Study Design: | Screening |
Estimated Enrollment: | 60 |
Study Start Date: | February 1995 |
Estimated Study Completion Date: | October 2000 |
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.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
PROTOCOL ENTRY CRITERIA:
--Disease Characteristics--
Known or suspected homocystinuria Cystathionine beta-synthase-deficient homocystinuria Obligate heterozygotes for cystathionine beta-synthase deficiency Premature vascular disease
Study ID Numbers: | 199/11920, UCSD-1033 |
Study First Received: | October 18, 1999 |
Last Updated: | June 23, 2005 |
ClinicalTrials.gov Identifier: | NCT00004356 |
Health Authority: | United States: Federal Government |
homocystinuria inborn errors of metabolism rare disease |
Metabolic Diseases Amino Acid Metabolism, Inborn Errors Rare Diseases Homocystinuria Central Nervous System Diseases Brain Diseases Metabolism, Inborn Errors |
Inborn amino acid metabolism disorder Genetic Diseases, Inborn Connective Tissue Diseases Brain Diseases, Metabolic, Inborn Metabolic disorder Brain Diseases, Metabolic |
Nervous System Diseases |