Study of Homocysteine Metabolism in Homocystinuria

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00004356

Enrollment

Registered

1999-10-19

Start date

1995-02-28

Completion date

2000-10-31

Last updated

2005-06-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Homocystinuria

Keywords

homocystinuria, inborn errors of metabolism, rare disease

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.

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.

Interventions

None listed

Eligibility

Sex/Gender

ALL

Age

0 Years to No maximum

Healthy volunteers

Yes

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

Outcome results