Ignite Creation Date:
2025-12-24 @ 12:32 PM
Ignite Modification Date:
2025-12-28 @ 12:59 PM
Study NCT ID:
NCT00006061
Status:
COMPLETED
Last Update Posted:
2005-06-24
First Post:
2000-07-05
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C564683', 'term': 'Hypermethioninemia'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D035583', 'term': 'Rare Diseases'}], 'ancestors': [{'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'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'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D010713', 'term': 'Phosphatidylcholines'}], 'ancestors': [{'id': 'D020404', 'term': 'Glycerophospholipids'}, {'id': 'D010712', 'term': 'Phosphatidic Acids'}, {'id': 'D005994', 'term': 'Glycerophosphates'}, {'id': 'D010743', 'term': 'Phospholipids'}, {'id': 'D008563', 'term': 'Membrane Lipids'}, {'id': 'D008055', 'term': 'Lipids'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'primaryPurpose': 'TREATMENT'}, 'enrollmentInfo': {'count': 1}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2000-01'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2000-07', 'completionDateStruct': {'date': '2000-01'}, 'lastUpdateSubmitDate': '2005-06-23', 'studyFirstSubmitDate': '2000-07-05', 'studyFirstSubmitQcDate': '2000-07-05', 'lastUpdatePostDateStruct': {'date': '2005-06-24', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2000-07-06', 'type': 'ESTIMATED'}}, 'conditionsModule': {'keywords': ['genetic diseases and dysmorphic syndromes', 'inborn errors of metabolism', 'methionine adenosyltransferase deficiency', 'rare disease'], 'conditions': ['Methionine Adenosyltransferase Deficiency', 'Metabolism, Inborn Errors']}, 'descriptionModule': {'briefSummary': '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.\n\nII. Determine whether this patient has a fatty liver by magnetic resonance spectroscopy.', 'detailedDescription': 'PROTOCOL OUTLINE:\n\nBlood 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.'}, 'eligibilityModule': {'sex': 'FEMALE', 'stdAges': ['ADULT'], 'maximumAge': '20 Years', 'minimumAge': '20 Years', 'healthyVolunteers': False, 'eligibilityCriteria': '* Patient with methionine adenosyltransferase deficiency who is nursing'}, 'identificationModule': {'nctId': 'NCT00006061', 'briefTitle': 'Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency', 'organization': {'class': 'NIH', 'fullName': 'Office of Rare Diseases (ORD)'}, 'orgStudyIdInfo': {'id': '199/15077'}, 'secondaryIdInfos': [{'id': 'UNCCH-GCRC-1405'}]}, 'armsInterventionsModule': {'interventions': [{'name': 'phosphatidylcholine', 'type': 'DRUG'}]}, 'contactsLocationsModule': {'overallOfficials': [{'name': 'Steven H. Zeisel', 'role': 'STUDY_CHAIR', 'affiliation': 'UNC Lineberger Comprehensive Cancer Center'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'National Center for Research Resources (NCRR)', 'class': 'NIH'}, 'collaborators': [{'name': 'UNC Lineberger Comprehensive Cancer Center', 'class': 'OTHER'}]}}}