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Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency

Primary Purpose

Methionine Adenosyltransferase Deficiency, Metabolism, Inborn Errors

Status
Completed
Phase
Not Applicable
Locations
Study Type
Interventional
Intervention
phosphatidylcholine
Sponsored by
National Center for Research Resources (NCRR)
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an interventional treatment trial for Methionine Adenosyltransferase Deficiency focused on measuring genetic diseases and dysmorphic syndromes, inborn errors of metabolism, methionine adenosyltransferase deficiency, rare disease

Eligibility Criteria

20 Years - 20 Years (Adult)FemaleDoes not accept healthy volunteers

Patient with methionine adenosyltransferase deficiency who is nursing

Sites / Locations

    Outcomes

    Primary Outcome Measures

    Secondary Outcome Measures

    Full Information

    First Posted
    July 5, 2000
    Last Updated
    June 23, 2005
    Sponsor
    National Center for Research Resources (NCRR)
    Collaborators
    UNC Lineberger Comprehensive Cancer Center
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    1. Study Identification

    Unique Protocol Identification Number
    NCT00006061
    Brief Title
    Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency
    Study Type
    Interventional

    2. Study Status

    Record Verification Date
    July 2000
    Overall Recruitment Status
    Completed
    Study Start Date
    January 2000 (undefined)
    Primary Completion Date
    undefined (undefined)
    Study Completion Date
    January 2000 (undefined)

    3. Sponsor/Collaborators

    Name of the Sponsor
    National Center for Research Resources (NCRR)
    Collaborators
    UNC Lineberger Comprehensive Cancer Center

    4. Oversight

    5. Study Description

    Brief Summary
    OBJECTIVES: I. Determine whether plasma choline and breast milk choline levels are low at fasting in a patient with methionine adenosyltransferase deficiency, and if the choline levels are low, determine whether choline levels respond to dietary supplementation with phosphatidylcholine. II. Determine whether this patient has a fatty liver by magnetic resonance spectroscopy.
    Detailed Description
    PROTOCOL OUTLINE: Blood is drawn for liver function tests and measurement of plasma choline levels and breast milk samples are taken for measurement of breast milk choline levels at fasting and at 1 hour after breakfast on day 1. The patient then undergoes magnetic resonance spectroscopy of the liver to assess liver density and choline compound mass. The patient then receives oral phosphatidylcholine supplement, and plasma and breast milk samples are taken at 3 and 6 hours after the dose. Oral phosphatidylcholine supplements continue for 30 days. The above studies are repeated on day 31.

    6. Conditions and Keywords

    Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
    Methionine Adenosyltransferase Deficiency, Metabolism, Inborn Errors
    Keywords
    genetic diseases and dysmorphic syndromes, inborn errors of metabolism, methionine adenosyltransferase deficiency, rare disease

    7. Study Design

    Primary Purpose
    Treatment
    Study Phase
    Not Applicable
    Enrollment
    1 (false)

    8. Arms, Groups, and Interventions

    Intervention Type
    Drug
    Intervention Name(s)
    phosphatidylcholine

    10. Eligibility

    Sex
    Female
    Minimum Age & Unit of Time
    20 Years
    Maximum Age & Unit of Time
    20 Years
    Accepts Healthy Volunteers
    No
    Eligibility Criteria
    Patient with methionine adenosyltransferase deficiency who is nursing
    Overall Study Officials:
    First Name & Middle Initial & Last Name & Degree
    Steven H. Zeisel
    Organizational Affiliation
    UNC Lineberger Comprehensive Cancer Center
    Official's Role
    Study Chair

    12. IPD Sharing Statement

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    Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency

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