We're building a better ClinicalTrials.gov. Check it out and tell us what you think!
ClinicalTrials.gov Menu

Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00006061
Recruitment Status : Completed
First Posted : July 6, 2000
Last Update Posted : June 24, 2005
UNC Lineberger Comprehensive Cancer Center
Information provided by:
Office of Rare Diseases (ORD)

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.

Condition or disease Intervention/treatment Phase
Methionine Adenosyltransferase Deficiency Metabolism, Inborn Errors Drug: phosphatidylcholine Not Applicable

Detailed Description:


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.

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Enrollment : 1 participants
Primary Purpose: Treatment
Study Start Date : January 2000
Study Completion Date : January 2000

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   20 Years to 20 Years   (Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
  • Patient with methionine adenosyltransferase deficiency who is nursing

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00006061

Sponsors and Collaborators
National Center for Research Resources (NCRR)
UNC Lineberger Comprehensive Cancer Center
Layout table for investigator information
Study Chair: Steven H. Zeisel UNC Lineberger Comprehensive Cancer Center
Layout table for additonal information
ClinicalTrials.gov Identifier: NCT00006061    
Other Study ID Numbers: 199/15077
First Posted: July 6, 2000    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: July 2000
Keywords provided by Office of Rare Diseases (ORD):
genetic diseases and dysmorphic syndromes
inborn errors of metabolism
methionine adenosyltransferase deficiency
rare disease
Additional relevant MeSH terms:
Layout table for MeSH terms
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases