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
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
Patient with methionine adenosyltransferase deficiency who is nursing
Sites / Locations
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
NCT ID
NCT00006061
First Posted
July 5, 2000
Last Updated
June 23, 2005
Sponsor
National Center for Research Resources (NCRR)
Collaborators
UNC Lineberger Comprehensive Cancer Center
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
Learn more about this trial
Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency
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