Ignite Creation Date:
2025-12-25 @ 1:33 AM
Ignite Modification Date:
2025-12-26 @ 2:01 AM
Study NCT ID:
NCT00018694
Status:
WITHDRAWN
Last Update Posted:
2013-10-14
First Post:
2001-07-03
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Cholestanol in Humans
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D019294', 'term': 'Xanthomatosis, Cerebrotendinous'}], 'ancestors': [{'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D014973', 'term': 'Xanthomatosis'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D002635', 'term': 'Chenodeoxycholic Acid'}], 'ancestors': [{'id': 'D003840', 'term': 'Deoxycholic Acid'}, {'id': 'D002793', 'term': 'Cholic Acids'}, {'id': 'D001647', 'term': 'Bile Acids and Salts'}, {'id': 'D013256', 'term': 'Steroids'}, {'id': 'D000072473', 'term': 'Fused-Ring Compounds'}, {'id': 'D011083', 'term': 'Polycyclic Compounds'}, {'id': 'D002757', 'term': 'Cholanes'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NON_RANDOMIZED', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 0}}, 'statusModule': {'overallStatus': 'WITHDRAWN', 'startDateStruct': {'date': '1999-10'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2013-10', 'completionDateStruct': {'date': '2009-12', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2013-10-11', 'studyFirstSubmitDate': '2001-07-03', 'studyFirstSubmitQcDate': '2001-07-04', 'lastUpdatePostDateStruct': {'date': '2013-10-14', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2001-07-05', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2009-12', 'type': 'ACTUAL'}}, 'conditionsModule': {'keywords': ['bile acid synthesis', 'chenodeoxycholic acid', 'sterol 27-hydroxylase'], 'conditions': ['Cerebrotendinous Xanthomatosis']}, 'descriptionModule': {'briefSummary': 'The treatment of cerebrotendinous xanthomatosis an in born error of bile acid synthesis with chenodeoxycholic acid. Patients with this disease over produce cholestanol and bile acid precursors because of the block in synthesis. Replacement with chenodeoxycholic acid shut down abnormal pathway and reduces elevated level of cholestanol and improves the clinical syndrome.', 'detailedDescription': 'Cerebrotendinous xanthomatosis is a recessively inherited in born of bile acid synthesis due to a mutation in sterol 27-hydroxylase (CYP27A1). Patients with this disease suffer from xanthomas located in the brain and tendon, accelerated atherosclerosis progression neurologic disease and cataracts. Plasma cholesterol levels are normal but cholestanol and C-27 bile alcohol that precursor of bile acid synthesis accumulate and are believe are responsible for the atherosclerosis, xanthomas and neurologic disease. Analysis of the bile reveal a severe sufficiency of the primary bile acid chenodeoxycholic acid that can not be produce because of the inherited defect. However, replacement of chenodeoxycholic acid in the enterohepatic pool inhibit abnormal bile acid synthesis and reduces the elevated level of cholestanol and C-27 bile alcohol this therapy halt the neurologic disease and prevents symptomatic atherosclerosis developing.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '80 Years', 'minimumAge': '5 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\nPatients with clinical and biochemical findings of cerebrotendinous xanthomatosis. Elevated levels of serum cholestanol and bile acid precursors.\n\nExclusion Criteria:'}, 'identificationModule': {'nctId': 'NCT00018694', 'briefTitle': 'Cholestanol in Humans', 'organization': {'class': 'FED', 'fullName': 'VA Office of Research and Development'}, 'officialTitle': 'Biologic Significance of Cholestanol in Man', 'orgStudyIdInfo': {'id': 'GAST-007-99S'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'OTHER', 'label': 'Arm 1', 'interventionNames': ['Drug: Chenodeoxycholic Acid']}], 'interventions': [{'name': 'Chenodeoxycholic Acid', 'type': 'DRUG', 'armGroupLabels': ['Arm 1']}]}, 'contactsLocationsModule': {'locations': [{'zip': '07018', 'city': 'East Orange', 'state': 'New Jersey', 'country': 'United States', 'facility': 'VA New Jersey Health Care System, East Orange', 'geoPoint': {'lat': 40.76732, 'lon': -74.20487}}], 'overallOfficials': [{'name': 'Gerald Salen', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'VA New Jersey Health Care System, East Orange'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'US Department of Veterans Affairs', 'class': 'FED'}, 'responsibleParty': {'type': 'SPONSOR'}}}}