Study of Homocysteine Metabolism in Homocystinuria

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

60 participants

Study Classification

OBSERVATIONAL

Study Start Date

1995-02-28

Study Completion Date

2000-10-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Homocystinuria

Eligibility Criteria

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Inclusion 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

Minimum Eligible Age

0 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Principal Investigators

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Bruce Barshop

Role: STUDY_CHAIR

University of California, San Diego

References

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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.

Reference Type BACKGROUND

Other Identifiers

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UCSD-1033

Identifier Type: -

Identifier Source: secondary_id

199/11920