Ignite Creation Date:
2025-12-24 @ 11:25 PM
Ignite Modification Date:
2026-01-01 @ 5:32 AM
Study NCT ID:
NCT00004356
Status:
COMPLETED
Last Update Posted:
2005-06-24
First Post:
1999-10-18
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Study of Homocysteine Metabolism in Homocystinuria
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006712', 'term': 'Homocystinuria'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D035583', 'term': 'Rare Diseases'}], 'ancestors': [{'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D020138', 'term': 'Hyperhomocysteinemia'}, {'id': 'D000592', 'term': 'Amino Acid Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D003240', 'term': 'Connective Tissue Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'enrollmentInfo': {'count': 60}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '1995-02'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2001-12', 'completionDateStruct': {'date': '2000-10'}, 'lastUpdateSubmitDate': '2005-06-23', 'studyFirstSubmitDate': '1999-10-18', 'studyFirstSubmitQcDate': '1999-10-18', 'lastUpdatePostDateStruct': {'date': '2005-06-24', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '1999-10-19', 'type': 'ESTIMATED'}}, 'conditionsModule': {'keywords': ['homocystinuria', 'inborn errors of metabolism', 'rare disease'], 'conditions': ['Homocystinuria']}, 'referencesModule': {'references': [{'type': 'BACKGROUND', 'citation': '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.'}]}, 'descriptionModule': {'briefSummary': '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.\n\nII. Determine whole-body homocysteine metabolic rates with isotopically-labeled methionine.', 'detailedDescription': 'PROTOCOL OUTLINE: This is a two-part study of homocysteine metabolism. Age-matched normal controls are entered in both parts of the study.\n\nIn 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.\n\nIn the second part of the study, participants (men and postmenopausal women only) undergo methionine tracer studies.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '0 Years', 'healthyVolunteers': True, 'eligibilityCriteria': 'PROTOCOL ENTRY CRITERIA:\n\n--Disease Characteristics--\n\nKnown or suspected homocystinuria Cystathionine beta-synthase-deficient homocystinuria Obligate heterozygotes for cystathionine beta-synthase deficiency Premature vascular disease'}, 'identificationModule': {'nctId': 'NCT00004356', 'briefTitle': 'Study of Homocysteine Metabolism in Homocystinuria', 'organization': {'class': 'NIH', 'fullName': 'Office of Rare Diseases (ORD)'}, 'orgStudyIdInfo': {'id': '199/11920'}, 'secondaryIdInfos': [{'id': 'UCSD-1033'}]}, 'contactsLocationsModule': {'overallOfficials': [{'name': 'Bruce Barshop', 'role': 'STUDY_CHAIR', 'affiliation': 'University of California, San Diego'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'National Center for Research Resources (NCRR)', 'class': 'NIH'}, 'collaborators': [{'name': 'University of California, San Diego', 'class': 'OTHER'}]}}}