Nctid:
NCT00001667
Payload:
{"hasResults"=>false, "derivedSection"=>{"miscInfoModule"=>{"versionHolder"=>"2024-09-05"}, "conditionBrowseModule"=>{"meshes"=>[{"id"=>"D000014202", "term"=>"Tremor"}, {"id"=>"D000009422", "term"=>"Nervous System Diseases"}, {"id"=>"D000009069", "term"=>"Movement Disorders"}, {"id"=>"D000013981", "term"=>"Tic Disorders"}, {"id"=>"D000009207", "term"=>"Myoclonus"}], "ancestors"=>[{"id"=>"D000020820", "term"=>"Dyskinesias"}, {"id"=>"D000009461", "term"=>"Neurologic Manifestations"}, {"id"=>"D000002493", "term"=>"Central Nervous System Diseases"}, {"id"=>"D000065886", "term"=>"Neurodevelopmental Disorders"}, {"id"=>"D000001523", "term"=>"Mental Disorders"}], "browseLeaves"=>[{"id"=>"M12029", "name"=>"Movement Disorders", "asFound"=>"Movement Disorders", "relevance"=>"HIGH"}, {"id"=>"M12159", "name"=>"Myoclonus", "asFound"=>"Myoclonus", "relevance"=>"HIGH"}, {"id"=>"M22132", "name"=>"Tics", "relevance"=>"LOW"}, {"id"=>"M16739", "name"=>"Tic Disorders", "asFound"=>"Tic Disorder", "relevance"=>"HIGH"}, {"id"=>"M16956", "name"=>"Tremor", "asFound"=>"Tremor", "relevance"=>"HIGH"}, {"id"=>"M22574", "name"=>"Dyskinesias", "relevance"=>"LOW"}, {"id"=>"M12404", "name"=>"Neurologic Manifestations", "relevance"=>"LOW"}, {"id"=>"M5742", "name"=>"Central Nervous System Diseases", "relevance"=>"LOW"}, {"id"=>"M30644", "name"=>"Neurodevelopmental Disorders", "relevance"=>"LOW"}, {"id"=>"M4815", "name"=>"Mental Disorders", "relevance"=>"LOW"}, {"id"=>"M14473", "name"=>"Psychotic Disorders", "relevance"=>"LOW"}], "browseBranches"=>[{"name"=>"Nervous System Diseases", "abbrev"=>"BC10"}, {"name"=>"All Conditions", "abbrev"=>"All"}, {"name"=>"Symptoms and General Pathology", "abbrev"=>"BC23"}, {"name"=>"Behaviors and Mental Disorders", "abbrev"=>"BXM"}]}}, "protocolSection"=>{"designModule"=>{"studyType"=>"OBSERVATIONAL", "enrollmentInfo"=>{"count"=>300}}, "statusModule"=>{"overallStatus"=>"COMPLETED", "startDateStruct"=>{"date"=>"1997-03"}, "expandedAccessInfo"=>{"hasExpandedAccess"=>false}, "statusVerifiedDate"=>"1999-02", "completionDateStruct"=>{"date"=>"2000-04"}, "lastUpdateSubmitDate"=>"2008-03-03", "studyFirstSubmitDate"=>"1999-11-03", "studyFirstSubmitQcDate"=>"2002-12-09", "lastUpdatePostDateStruct"=>{"date"=>"2008-03-04", "type"=>"ESTIMATED"}, "studyFirstPostDateStruct"=>{"date"=>"2002-12-10", "type"=>"ESTIMATED"}}, "conditionsModule"=>{"keywords"=>["Family Studies", "Genetic", "Myoclonus", "Tics", "Tremor", "Movement Disorders", "Neurological Disease"], "conditions"=>["Movement Disorders", "Myoclonus", "Nervous System Diseases", "Tic Disorders", "Tremor"]}, "referencesModule"=>{"references"=>[{"pmid"=>"8559377", "type"=>"BACKGROUND", "citation"=>"Higgins JJ, Nee LE, Vasconcelos O, Ide SE, Lavedan C, Goldfarb LG, Polymeropoulos MH. Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology. 1996 Jan;46(1):208-13. doi: 10.1212/wnl.46.1.208."}, {"pmid"=>"8559378", "type"=>"BACKGROUND", "citation"=>"Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W, Steiner CE, Pinto-Junior W, Maciel JA, Jerin S, Sack G, Andermann E, Sudarsky L, Rosenberg R, MacLeod P, Chitayat D, Babul R, Sequeiros J, Rouleau GA. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology. 1996 Jan;46(1):214-8. doi: 10.1212/wnl.46.1.214."}, {"pmid"=>"7730309", "type"=>"BACKGROUND", "citation"=>"Ichinose H, Ohye T, Matsuda Y, Hori T, Blau N, Burlina A, Rouse B, Matalon R, Fujita K, Nagatsu T. Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. J Biol Chem. 1995 Apr 28;270(17):10062-71. doi: 10.1074/jbc.270.17.10062."}]}, "descriptionModule"=>{"briefSummary"=>"The purpose of this protocol is to identify families with inherited neurologic conditions, especially movement disorders, to evaluate affected and unaffected individuals clinically, and to obtain blood samples for genetic analysis.", "detailedDescription"=>"The purpose of this protocol is to identify families with inherited neurologic conditions, especially movement disorders, to evaluate affected and unaffected individuals clinically, and to obtain blood samples for genetic analysis."}, "eligibilityModule"=>{"sex"=>"ALL", "stdAges"=>["CHILD", "ADULT", "OLDER_ADULT"], "healthyVolunteers"=>false, "eligibilityCriteria"=>"Neurologic disease or movement disorders affecting 2 or more family members.\n\nNo conditions in which phlebotomy is contra-indicated."}, "identificationModule"=>{"nctId"=>"NCT00001667", "briefTitle"=>"Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases", "organization"=>{"class"=>"NIH", "fullName"=>"National Institutes of Health Clinical Center (CC)"}, "officialTitle"=>"Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases", "orgStudyIdInfo"=>{"id"=>"970097"}, "secondaryIdInfos"=>[{"id"=>"97-N-0097"}]}, "contactsLocationsModule"=>{"locations"=>[{"zip"=>"20892", "city"=>"Bethesda", "state"=>"Maryland", "country"=>"United States", "facility"=>"National Institute of Neurological Disorders and Stroke (NINDS)", "geoPoint"=>{"lat"=>38.98067, "lon"=>-77.10026}}]}, "sponsorCollaboratorsModule"=>{"leadSponsor"=>{"name"=>"National Institute of Neurological Disorders and Stroke (NINDS)", "class"=>"NIH"}}}}
