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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

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

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

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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