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Study of Homocysteine Metabolism in Homocystinuria

Primary Purpose

Homocystinuria

Status
Completed
Phase
Locations
Study Type
Observational
Intervention
Sponsored by
National Center for Research Resources (NCRR)
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an observational trial for Homocystinuria focused on measuring homocystinuria, inborn errors of metabolism, rare disease

Eligibility Criteria

0 Years - undefined (Child, Adult, Older Adult)All SexesAccepts Healthy Volunteers

PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- Known or suspected homocystinuria Cystathionine beta-synthase-deficient homocystinuria Obligate heterozygotes for cystathionine beta-synthase deficiency Premature vascular disease

Sites / Locations

    Outcomes

    Primary Outcome Measures

    Secondary Outcome Measures

    Full Information

    First Posted
    October 18, 1999
    Last Updated
    June 23, 2005
    Sponsor
    National Center for Research Resources (NCRR)
    Collaborators
    University of California, San Diego
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    1. Study Identification

    Unique Protocol Identification Number
    NCT00004356
    Brief Title
    Study of Homocysteine Metabolism in Homocystinuria
    Study Type
    Observational

    2. Study Status

    Record Verification Date
    December 2001
    Overall Recruitment Status
    Completed
    Study Start Date
    February 1995 (undefined)
    Primary Completion Date
    undefined (undefined)
    Study Completion Date
    October 2000 (undefined)

    3. Sponsor/Collaborators

    Name of the Sponsor
    National Center for Research Resources (NCRR)
    Collaborators
    University of California, San Diego

    4. Oversight

    5. Study Description

    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.

    6. Conditions and Keywords

    Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
    Homocystinuria
    Keywords
    homocystinuria, inborn errors of metabolism, rare disease

    7. Study Design

    Enrollment
    60 (false)

    10. Eligibility

    Sex
    All
    Minimum Age & Unit of Time
    0 Years
    Accepts Healthy Volunteers
    Accepts Healthy Volunteers
    Eligibility 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
    Overall Study Officials:
    First Name & Middle Initial & Last Name & Degree
    Bruce Barshop
    Organizational Affiliation
    University of California, San Diego
    Official's Role
    Study Chair

    12. IPD Sharing Statement

    Citations:
    Citation
    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.
    Results Reference
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    Study of Homocysteine Metabolism in Homocystinuria

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