NCT00006061

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.

Trial Health

100
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Jan 2000

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2000

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2000

Completed
6 months until next milestone

First Submitted

Initial submission to the registry

July 5, 2000

Completed
1 day until next milestone

First Posted

Study publicly available on registry

July 6, 2000

Completed
Last Updated

June 24, 2005

Status Verified

July 1, 2000

First QC Date

July 5, 2000

Last Update Submit

June 23, 2005

Conditions

Keywords

genetic diseases and dysmorphic syndromesinborn errors of metabolismmethionine adenosyltransferase deficiencyrare disease

Interventions

Eligibility Criteria

Age20 Years - 20 Years
Sexfemale
Healthy VolunteersNo
Age GroupsAdult (18-64)
* Patient with methionine adenosyltransferase deficiency who is nursing

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

MeSH Terms

Conditions

HypermethioninemiaMetabolism, Inborn ErrorsGenetic Diseases, InbornRare Diseases

Interventions

Phosphatidylcholines

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic DiseasesDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

GlycerophospholipidsPhosphatidic AcidsGlycerophosphatesPhospholipidsMembrane LipidsLipids

Study Officials

  • Steven H. Zeisel

    UNC Lineberger Comprehensive Cancer Center

    STUDY CHAIR

Study Design

Study Type
interventional
Phase
not applicable
Purpose
TREATMENT
Sponsor Type
NIH

Study Record Dates

First Submitted

July 5, 2000

First Posted

July 6, 2000

Study Start

January 1, 2000

Study Completion

January 1, 2000

Last Updated

June 24, 2005

Record last verified: 2000-07