Nctid:
NCT00001642
Payload:
{"hasResults"=>false, "derivedSection"=>{"miscInfoModule"=>{"versionHolder"=>"2024-12-20"}, "conditionBrowseModule"=>{"meshes"=>[{"id"=>"D016738", "term"=>"Alagille Syndrome"}, {"id"=>"D013577", "term"=>"Syndrome"}], "ancestors"=>[{"id"=>"D004194", "term"=>"Disease"}, {"id"=>"D010335", "term"=>"Pathologic Processes"}, {"id"=>"D002780", "term"=>"Cholestasis, Intrahepatic"}, {"id"=>"D002779", "term"=>"Cholestasis"}, {"id"=>"D001649", "term"=>"Bile Duct Diseases"}, {"id"=>"D001660", "term"=>"Biliary Tract Diseases"}, {"id"=>"D004066", "term"=>"Digestive System Diseases"}, {"id"=>"D008107", "term"=>"Liver Diseases"}, {"id"=>"D006330", "term"=>"Heart Defects, Congenital"}, {"id"=>"D018376", "term"=>"Cardiovascular Abnormalities"}, {"id"=>"D002318", "term"=>"Cardiovascular Diseases"}, {"id"=>"D000015", "term"=>"Abnormalities, Multiple"}, {"id"=>"D000013", "term"=>"Congenital Abnormalities"}, {"id"=>"D030342", "term"=>"Genetic Diseases, Inborn"}], "browseLeaves"=>[{"id"=>"M16355", "name"=>"Syndrome", "asFound"=>"Syndrome", "relevance"=>"HIGH"}, {"id"=>"M19099", "name"=>"Alagille Syndrome", "asFound"=>"Alagille Syndrome", "relevance"=>"HIGH"}, {"id"=>"M6111", "name"=>"Chromosome Deletion", "relevance"=>"LOW"}, {"id"=>"M6019", "name"=>"Cholestasis", "relevance"=>"LOW"}, {"id"=>"M6020", "name"=>"Cholestasis, Intrahepatic", "relevance"=>"LOW"}, {"id"=>"M4935", "name"=>"Bile Duct Diseases", "relevance"=>"LOW"}, {"id"=>"M4946", "name"=>"Biliary Tract Diseases", "relevance"=>"LOW"}, {"id"=>"M8883", "name"=>"Gastrointestinal Diseases", "relevance"=>"LOW"}, {"id"=>"M7255", "name"=>"Digestive System Diseases", "relevance"=>"LOW"}, {"id"=>"M11107", "name"=>"Liver Diseases", "relevance"=>"LOW"}, {"id"=>"M9418", "name"=>"Heart Defects, Congenital", "relevance"=>"LOW"}, {"id"=>"M12", "name"=>"Congenital Abnormalities", "relevance"=>"LOW"}, {"id"=>"M20503", "name"=>"Cardiovascular Abnormalities", "relevance"=>"LOW"}, {"id"=>"M14", "name"=>"Abnormalities, Multiple", "relevance"=>"LOW"}, {"id"=>"M23686", "name"=>"Genetic Diseases, Inborn", "relevance"=>"LOW"}, {"id"=>"T260", "name"=>"Alagille Syndrome", "asFound"=>"Alagille Syndrome", "relevance"=>"HIGH"}], "browseBranches"=>[{"name"=>"Symptoms and General Pathology", "abbrev"=>"BC23"}, {"name"=>"All Conditions", "abbrev"=>"All"}, {"name"=>"Digestive System Diseases", "abbrev"=>"BC06"}, {"name"=>"Heart and Blood Diseases", "abbrev"=>"BC14"}, {"name"=>"Diseases and Abnormalities at or Before Birth", "abbrev"=>"BC16"}, {"name"=>"Rare Diseases", "abbrev"=>"Rare"}]}}, "protocolSection"=>{"designModule"=>{"studyType"=>"OBSERVATIONAL", "enrollmentInfo"=>{"count"=>225}}, "statusModule"=>{"overallStatus"=>"COMPLETED", "startDateStruct"=>{"date"=>"1997-05"}, "expandedAccessInfo"=>{"hasExpandedAccess"=>false}, "statusVerifiedDate"=>"1999-05", "completionDateStruct"=>{"date"=>"2000-03"}, "lastUpdateSubmitDate"=>"2008-03-03", "studyFirstSubmitDate"=>"2000-04-06", "studyFirstSubmitQcDate"=>"2002-12-09", "lastUpdatePostDateStruct"=>{"date"=>"2008-03-04", "type"=>"ESTIMATED"}, "studyFirstPostDateStruct"=>{"date"=>"2002-12-10", "type"=>"ESTIMATED"}}, "conditionsModule"=>{"keywords"=>["Chromosomal Deletion", "Mutations", "Paucity of Bile Ducts", "Physical Map", "Transcript Identification", "Alagille Syndrome", "Syndromic Bile Duct Paucity"], "conditions"=>["Alagille Syndrome"]}, "referencesModule"=>{"references"=>[{"pmid"=>"803282", "type"=>"BACKGROUND", "citation"=>"Alagille D, Odievre M, Gautier M, Dommergues JP. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr. 1975 Jan;86(1):63-71. doi: 10.1016/s0022-3476(75)80706-2."}, {"pmid"=>"3806290", "type"=>"BACKGROUND", "citation"=>"Alagille D, Estrada A, Hadchouel M, Gautier M, Odievre M, Dommergues JP. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr. 1987 Feb;110(2):195-200. doi: 10.1016/s0022-3476(87)80153-1."}, {"pmid"=>"9207787", "type"=>"BACKGROUND", "citation"=>"Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet. 1997 Jul;16(3):235-42. doi: 10.1038/ng0797-235."}]}, "descriptionModule"=>{"briefSummary"=>"The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach. The first step towards this goal is to define the smallest genomic candidate region for AGS at 20p12 and to begin to identify genes within this region which are, by definition, candidate genes for the disease. In a collaborative effort with clinician-investigators studying the Alagille syndrome, metaphase chromosomes and genomic DNA from affected individuals will be studied for subchromosomal deletions and for mutations in the candidate genes. Characterization of genes involved in Alagille syndrome could provide important insight into the pathophysiology of the disease, the development of normal liver and treatment of this disease. Recently, we and others found that mutations in Jagged1, a Notch1 receptor are responsible for Alagille Syndrome.", "detailedDescription"=>"The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach. The first step towards this goal is to define the smallest genomic candidate region for AGS at 20p12 and to begin to identify genes within this region which are, by definition, candidate genes for the disease. In a collaborative effort with clinician-investigators studying the Alagille syndrome, metaphase chromosomes and genomic DNA from affected individuals will be studied for subchromosomal deletions and for mutations in the candidate genes. Characterization of genes involved in Alagille syndrome could provide important insight into the pathophysiology of the disease, the development of normal liver and treatment of this disease."}, "eligibilityModule"=>{"sex"=>"ALL", "stdAges"=>["CHILD", "ADULT", "OLDER_ADULT"], "healthyVolunteers"=>false, "eligibilityCriteria"=>"All enrolled affected subjects, whose samples will be analyzed in this study, must meet the criteria for the clinical diagnosis of Alagille Syndrome (Syndromic Bile Duct Paucity) which include liver biopsy findings consistent with Alagille Syndrome and at least 3 of the 5 primary clinical criteria: cholestasis, characteristic face, posterior embryotoxon, \"butterfly\" vertebrae and cardiac findings."}, "identificationModule"=>{"nctId"=>"NCT00001642", "briefTitle"=>"Positional Cloning of the Gene(s) Responsible for Alagille Syndrome", "organization"=>{"class"=>"NIH", "fullName"=>"National Institutes of Health Clinical Center (CC)"}, "officialTitle"=>"Positional Cloning of the Gene(s) Responsible for Alagille Syndrome", "orgStudyIdInfo"=>{"id"=>"970122"}, "secondaryIdInfos"=>[{"id"=>"97-HG-0122"}]}, "contactsLocationsModule"=>{"locations"=>[{"zip"=>"20892", "city"=>"Bethesda", "state"=>"Maryland", "country"=>"United States", "facility"=>"National Human Genome Research Institute (NHGRI)", "geoPoint"=>{"lat"=>38.98067, "lon"=>-77.10026}}]}, "sponsorCollaboratorsModule"=>{"leadSponsor"=>{"name"=>"National Human Genome Research Institute (NHGRI)", "class"=>"NIH"}}}}
