- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00004356
Study of Homocysteine Metabolism in Homocystinuria
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.
Study Overview
Status
Conditions
Detailed Description
PROTOCOL OUTLINE: This is a two-part study of homocysteine metabolism. Age-matched normal controls are entered in both parts of the study.
In first part of the study, participants are given oral methionine; baseline and postmethionine studies include amino acid quantitation, analysis of rapidly deproteinized plasma, and total plasma homocysteine.
In the second part of the study, participants (men and postmenopausal women only) undergo methionine tracer studies.
Study Type
Enrollment
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
PROTOCOL ENTRY CRITERIA:
--Disease Characteristics--
Known or suspected homocystinuria Cystathionine beta-synthase-deficient homocystinuria Obligate heterozygotes for cystathionine beta-synthase deficiency Premature vascular disease
Study Plan
How is the study designed?
Collaborators and Investigators
Collaborators
Publications and helpful links
Study record dates
Study Major Dates
Study Start
Study Completion
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Metabolic Diseases
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Genetic Diseases, Inborn
- Connective Tissue Diseases
- Metabolism, Inborn Errors
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Amino Acid Metabolism, Inborn Errors
- Hyperhomocysteinemia
- Homocystinuria
Other Study ID Numbers
- 199/11920
- UCSD-1033
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Clinical Trials on Homocystinuria
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Travere Therapeutics, Inc.RecruitingNatural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)Homocystinuria Due to CBS DeficiencyIreland, Qatar, United States, United Kingdom
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Aeglea BiotherapeuticsTerminatedHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyUnited States, United Kingdom, Australia
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Bambino Gesù Hospital and Research InstituteCatholic University of the Sacred HeartCompletedGenetic Disease | Retinopathy | Methylmalonic Aciduria and Homocystinuria,Cblc TypeItaly
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Travere Therapeutics, Inc.Active, not recruiting
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SynlogicCompletedHomocystinuriaUnited States
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Assistance Publique - Hôpitaux de ParisCompleted
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University of LausanneCompleted
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University of Colorado, DenverCompletedHomocystinuriaUnited States
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McGill University Health Centre/Research Institute...March of DimesCompleted
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Travere Therapeutics, Inc.Recruiting