NCT00004356

Brief Summary

OBJECTIVES: I. Determine basal and postmethionine plasma homocysteine in patients with premature vascular disease, cystathionine beta-synthase (CBS) or methylenetitrahydrofolate reductase (MTHFR) deficiency, and in obligate heterozygotes for CBS or MTHFR. II. Determine whole-body homocysteine metabolic rates with isotopically-labeled methionine.

Trial Health

100
On Track

Trial Health Score

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

Enrollment
60

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Feb 1995

Longer than P75 for all trials

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

February 1, 1995

Completed
4.7 years until next milestone

First Submitted

Initial submission to the registry

October 18, 1999

Completed
1 day until next milestone

First Posted

Study publicly available on registry

October 19, 1999

Completed
12 months until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2000

Completed
Last Updated

June 24, 2005

Status Verified

December 1, 2001

First QC Date

October 18, 1999

Last Update Submit

June 23, 2005

Conditions

Homocystinuria

Keywords

homocystinuriainborn errors of metabolismrare disease

Eligibility Criteria

Age0 Years+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- Known or suspected homocystinuria Cystathionine beta-synthase-deficient homocystinuria Obligate heterozygotes for cystathionine beta-synthase deficiency Premature vascular disease

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

Sponsors & Collaborators

Related Publications (1)

  • Page T, Barshop BA, Yu A, et al.: Treatment of Lesch-Nyhan syndrome with AICAR. In: Sahota A, Tayor M, eds.: Purine and Pyrimidine Metabolism in Man VIII. Plenum Press, New York, NY: 1995, pp 353-356.

    BACKGROUND

MeSH Terms

Conditions

HomocystinuriaMetabolism, Inborn ErrorsRare Diseases

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesHyperhomocysteinemiaAmino Acid Metabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesConnective Tissue DiseasesSkin and Connective Tissue DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Bruce Barshop

    University of California, San Diego

    STUDY CHAIR

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

October 18, 1999

First Posted

October 19, 1999

Study Start

February 1, 1995

Study Completion

October 1, 2000

Last Updated

June 24, 2005

Record last verified: 2001-12