Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency

This study has been completed.

Sponsors and Collaborators:	National Center for Research Resources (NCRR) UNC Lineberger Comprehensive Cancer Center
Information provided by:	Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier:	NCT00006061

Purpose

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	Intervention
Methionine Adenosyltransferase Deficiency Metabolism, Inborn Errors	Drug: phosphatidylcholine

Genetics Home Reference related topics: hypermethioninemia

Drug Information available for: Methionine Lecithin

U.S. FDA Resources

Study Type:	Interventional
Study Design:	Treatment

Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment:	1
Study Start Date:	January 2000
Estimated Study Completion Date:	January 2000

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.

Eligibility

Ages Eligible for Study:	20 Years to 20 Years
Genders Eligible for Study:	Female
Accepts Healthy Volunteers:	No

Criteria

Patient with methionine adenosyltransferase deficiency who is nursing

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00006061

Sponsors and Collaborators

National Center for Research Resources (NCRR)

UNC Lineberger Comprehensive Cancer Center

Investigators

Study Chair:

Steven H. Zeisel

UNC Lineberger Comprehensive Cancer Center

More Information

Study ID Numbers:	199/15077, UNCCH-GCRC-1405
Study First Received:	July 5, 2000
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00006061
Health Authority:	United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):

genetic diseases and dysmorphic syndromes
inborn errors of metabolism
methionine adenosyltransferase deficiency
rare disease

Study placed in the following topic categories:

Metabolism, Inborn Errors
Metabolic Diseases
Genetic Diseases, Inborn

Rare Diseases
MAT deficiency
Metabolic disorder

ClinicalTrials.gov processed this record on January 16, 2009