Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

1 participants

Study Classification

INTERVENTIONAL

Study Start Date

2000-01-31

Study Completion Date

2000-01-31

Brief Summary

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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

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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.

Conditions

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Methionine Adenosyltransferase Deficiency Metabolism, Inborn Errors

Keywords

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

Study Design

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Primary Study Purpose

TREATMENT

Interventions

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phosphatidylcholine

Intervention Type DRUG

Eligibility Criteria

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Inclusion Criteria

* Patient with methionine adenosyltransferase deficiency who is nursing

Minimum Eligible Age

20 Years

Maximum Eligible Age

20 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

No

Principal Investigators

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Steven H. Zeisel

Role: STUDY_CHAIR

UNC Lineberger Comprehensive Cancer Center

Other Identifiers

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UNCCH-GCRC-1405

Identifier Type: -

Identifier Source: secondary_id

199/15077