Nctid:
NCT00001404
Payload:
{"FullStudy"=>{"Rank"=>473542, "Study"=>{"DerivedSection"=>{"MiscInfoModule"=>{"VersionHolder"=>"December 01, 2023", "RemovedCountryList"=>{"RemovedCountry"=>["Italy", "Japan", "Netherlands", "Spain", "United Arab Emirates", "United Kingdom"]}}, "ConditionBrowseModule"=>{"ConditionMeshList"=>{"ConditionMesh"=>[{"ConditionMeshId"=>"D000054975", "ConditionMeshTerm"=>"Pallister-Hall Syndrome"}, {"ConditionMeshId"=>"D000017689", "ConditionMeshTerm"=>"Polydactyly"}, {"ConditionMeshId"=>"D000000013", "ConditionMeshTerm"=>"Congenital Abnormalities"}]}, "ConditionAncestorList"=>{"ConditionAncestor"=>[{"ConditionAncestorId"=>"D000017880", "ConditionAncestorTerm"=>"Limb Deformities, Congenital"}, {"ConditionAncestorId"=>"D000009139", "ConditionAncestorTerm"=>"Musculoskeletal Abnormalities"}, {"ConditionAncestorId"=>"D000009140", "ConditionAncestorTerm"=>"Musculoskeletal Diseases"}, {"ConditionAncestorId"=>"D000006222", "ConditionAncestorTerm"=>"Hamartoma"}, {"ConditionAncestorId"=>"D000009369", "ConditionAncestorTerm"=>"Neoplasms"}, {"ConditionAncestorId"=>"D000007029", "ConditionAncestorTerm"=>"Hypothalamic Neoplasms"}, {"ConditionAncestorId"=>"D000015173", "ConditionAncestorTerm"=>"Supratentorial Neoplasms"}, {"ConditionAncestorId"=>"D000001932", "ConditionAncestorTerm"=>"Brain Neoplasms"}, {"ConditionAncestorId"=>"D000016543", "ConditionAncestorTerm"=>"Central Nervous System Neoplasms"}, {"ConditionAncestorId"=>"D000009423", "ConditionAncestorTerm"=>"Nervous System Neoplasms"}, {"ConditionAncestorId"=>"D000009371", "ConditionAncestorTerm"=>"Neoplasms by Site"}, {"ConditionAncestorId"=>"D000001927", "ConditionAncestorTerm"=>"Brain Diseases"}, {"ConditionAncestorId"=>"D000002493", "ConditionAncestorTerm"=>"Central Nervous System Diseases"}, {"ConditionAncestorId"=>"D000009422", "ConditionAncestorTerm"=>"Nervous System Diseases"}, {"ConditionAncestorId"=>"D000007027", "ConditionAncestorTerm"=>"Hypothalamic Diseases"}, {"ConditionAncestorId"=>"D000000015", "ConditionAncestorTerm"=>"Abnormalities, Multiple"}]}, "ConditionBrowseLeafList"=>{"ConditionBrowseLeaf"=>[{"ConditionBrowseLeafId"=>"M16045", "ConditionBrowseLeafName"=>"Syndrome", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M12", "ConditionBrowseLeafName"=>"Congenital Abnormalities", "ConditionBrowseLeafAsFound"=>"Malformations", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"M15142", "ConditionBrowseLeafName"=>"Seizures", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M9004", "ConditionBrowseLeafName"=>"Hamartoma", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M14", "ConditionBrowseLeafName"=>"Abnormalities, Multiple", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M19599", "ConditionBrowseLeafName"=>"Polydactyly", "ConditionBrowseLeafAsFound"=>"Polydactyly", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"M27675", "ConditionBrowseLeafName"=>"Pallister-Hall Syndrome", "ConditionBrowseLeafAsFound"=>"Pallister-Hall Syndrome", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"M19752", "ConditionBrowseLeafName"=>"Limb Deformities, Congenital", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M11786", "ConditionBrowseLeafName"=>"Musculoskeletal Abnormalities", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M11787", "ConditionBrowseLeafName"=>"Musculoskeletal Diseases", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M9769", "ConditionBrowseLeafName"=>"Hypothalamic Neoplasms", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M17577", "ConditionBrowseLeafName"=>"Supratentorial Neoplasms", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M4899", "ConditionBrowseLeafName"=>"Brain Neoplasms", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M18627", "ConditionBrowseLeafName"=>"Central Nervous System Neoplasms", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M12057", "ConditionBrowseLeafName"=>"Nervous System Neoplasms", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M4894", "ConditionBrowseLeafName"=>"Brain Diseases", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M5432", "ConditionBrowseLeafName"=>"Central Nervous System Diseases", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M9767", "ConditionBrowseLeafName"=>"Hypothalamic Diseases", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"T591", "ConditionBrowseLeafName"=>"Autosomal Dominant Multiple Pterygium Syndrome", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"T4615", "ConditionBrowseLeafName"=>"Polydactyly", "ConditionBrowseLeafAsFound"=>"Polydactyly", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"T4381", "ConditionBrowseLeafName"=>"Pallister-Hall Syndrome", "ConditionBrowseLeafAsFound"=>"Pallister-Hall Syndrome", "ConditionBrowseLeafRelevance"=>"high"}]}, "ConditionBrowseBranchList"=>{"ConditionBrowseBranch"=>[{"ConditionBrowseBranchName"=>"Symptoms and General Pathology", "ConditionBrowseBranchAbbrev"=>"BC23"}, {"ConditionBrowseBranchName"=>"All Conditions", "ConditionBrowseBranchAbbrev"=>"All"}, {"ConditionBrowseBranchName"=>"Diseases and Abnormalities at or Before Birth", "ConditionBrowseBranchAbbrev"=>"BC16"}, {"ConditionBrowseBranchName"=>"Nervous System Diseases", "ConditionBrowseBranchAbbrev"=>"BC10"}, {"ConditionBrowseBranchName"=>"Neoplasms", "ConditionBrowseBranchAbbrev"=>"BC04"}, {"ConditionBrowseBranchName"=>"Musculoskeletal Diseases", "ConditionBrowseBranchAbbrev"=>"BC05"}, {"ConditionBrowseBranchName"=>"Rare Diseases", "ConditionBrowseBranchAbbrev"=>"Rare"}]}}}, "ProtocolSection"=>{"DesignModule"=>{"StudyType"=>"Observational", "EnrollmentInfo"=>{"EnrollmentType"=>"Actual", "EnrollmentCount"=>"1170"}}, "StatusModule"=>{"OverallStatus"=>"Completed", "StartDateStruct"=>{"StartDate"=>"August 18, 1994"}, "ExpandedAccessInfo"=>{"HasExpandedAccess"=>"No"}, "StatusVerifiedDate"=>"January 7, 2016", "CompletionDateStruct"=>{"CompletionDate"=>"January 7, 2016"}, "LastUpdateSubmitDate"=>"December 13, 2019", "StudyFirstSubmitDate"=>"November 3, 1999", "StudyFirstSubmitQCDate"=>"November 3, 1999", "LastUpdatePostDateStruct"=>{"LastUpdatePostDate"=>"December 16, 2019", "LastUpdatePostDateType"=>"Actual"}, "StudyFirstPostDateStruct"=>{"StudyFirstPostDate"=>"November 4, 1999", "StudyFirstPostDateType"=>"Estimate"}}, "OversightModule"=>{}, "ConditionsModule"=>{"KeywordList"=>{"Keyword"=>["Abnormalities, Multiple", "Hypothalamic Hamartoma", "Polysyndactyly", "Autosomal Dominant", "Mutation", "Gelastic", "Gelastic Seizure", "Hypothalamic", "Malformations", "Polydactyly", "Pallister-Hall Syndrome"]}, "ConditionList"=>{"Condition"=>["Malformations", "Multiple Abnormalies", "Polydactyly"]}}, "ReferencesModule"=>{"ReferenceList"=>{"Reference"=>[{"ReferencePMID"=>"9054938", "ReferenceType"=>"background", "ReferenceCitation"=>"Kang S, Graham JM Jr, Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet. 1997 Mar;15(3):266-8. doi: 10.1038/ng0397-266."}, {"ReferencePMID"=>"9192261", "ReferenceType"=>"background", "ReferenceCitation"=>"Kang S, Allen J, Graham JM Jr, Grebe T, Clericuzio C, Patronas N, Ondrey F, Green E, Schaffer A, Abbott M, Biesecker LG. Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. J Med Genet. 1997 Jun;34(6):441-6. doi: 10.1136/jmg.34.6.441."}, {"ReferencePMID"=>"8818945", "ReferenceType"=>"background", "ReferenceCitation"=>"Biesecker LG, Graham JM Jr. Pallister-Hall syndrome. J Med Genet. 1996 Jul;33(7):585-9. doi: 10.1136/jmg.33.7.585. No abstract available."}]}}, "DescriptionModule"=>{"BriefSummary"=>"We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl syndrome (BBS), Oro-facial digital syndromes (OFDs), and other overlapping phenotypes. These disorders comprise a syndrome community of overlapping manifestations and we hypothesize that this is a reflection of a common mechanistic pathway. This hypothesis be addressed by a combined clinical-molecular approach where we bring up to 50-100 patients with each disorder to the NIH clinical center for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder. Specimens will be collected and evaluated in the laboratory by linkage analysis, physical mapping, candidate gene characterization, mutation screening, and cell biologic studies of normal mutant proteins.", "DetailedDescription"=>"We aim to use the power of modern molecular genetics and clinical research to delineate the\n\nrange of severity, natural history, molecular etiology, and pathophysiology of a number of\n\ncongenital anomaly syndromes. The goal of the research is to develop a knowledge base that allows proper clinical and molecular diagnosis of patients with rare congenital anomaly\n\ndisorders. Our paradigm is the previous work we have done with Pallister-Hall syndrome (PHS) and Greig cephalopolysyndactyly syndrome (GCPS), where we have successfully used a combined clinical-molecular approach. Using this strategy, we have brought 50-100 patients or families with these disorders to the NIH clinical center (NIH CC) for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder. We have also clinically and/or molecularly evaluated many additional patients with atypical or non-classic presentations of PHS and GCPS and have conducted exploratory studies of other phenotypes to determine how they might fit into the more general models generated to explain PHS and GCPS. We are currently generalizing this approach to a number of disorders including talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava (TARP) syndrome. Specimens from patients participating in both the laboratory and clinical arms of the protocol will be collected and evaluated in the laboratory by linkage analysis, physical mapping, candidate gene characterization, mutation screening and targeted exome sequencing, and cell biologic studies of normal and mutant proteins."}, "EligibilityModule"=>{"Gender"=>"All", "StdAgeList"=>{"StdAge"=>["Child", "Adult", "Older Adult"]}, "HealthyVolunteers"=>"No", "EligibilityCriteria"=>"INCLUSION CRITERIA:\n\nSubjects with clinical manifestations of a congenital anomaly or craniofacial syndrome, or a single congenital anomaly that is also seen as part of a congenital anomaly syndrome will be considered eligible for participation in this protocol.\n\nBlood will also be requested on unaffected relatives that could be informative for linkage studies or for determining co-segregation of mutations within families. Subjects of either gender and all ethnic and racial groups will be accepted.\n\nPrenatal specimens (amniocentesis or CVS) will be accepted if they are previously acquired for clinically indicated reasons. Cord blood or placenta specimens may be accepted if they (or a part of them) are not needed for clinical purposes.\n\nSpecimens from patients collected at outside institutions may be accepted into the study if they were collected under an IRB-approved protocol at an MPA or FWA institution.\n\nCoded specimens (specimens linked to identifiers but without personal identifiers attached to the sample) may be acquired from other NIH investigators, analyzed, and returned as research results to that investigator.\n\nEXCLUSION CRITERIA:\n\nPatients with typical GCPS or PHS who have demonstrated GLI3 mutations may be excluded from this study. Patients with phenotypes and disorders with a high risk/benefit ratio such as late-onset, neurodegenerative, psychiatric, and cancer-predisposition disorders will be excluded from participation. Similarly, patients who are medically fragile or unable to tolerate travel to the NIH CC will not routinely be eligible for participation. Probands who are adults and decisionally-impaired are ineligible if they do not have a legal guardian who has authority to sign a consent form on their behalf."}, "IdentificationModule"=>{"NCTId"=>"NCT00001404", "BriefTitle"=>"Phenotype and Etiology of Pallister-Hall Syndrome", "Organization"=>{"OrgClass"=>"NIH", "OrgFullName"=>"National Institutes of Health Clinical Center (CC)"}, "OfficialTitle"=>"Genetic and Clinical Studies of Congenital Anomaly Syndromes", "OrgStudyIdInfo"=>{"OrgStudyId"=>"940193"}, "SecondaryIdInfoList"=>{"SecondaryIdInfo"=>[{"SecondaryId"=>"94-HG-0193"}]}}, "ContactsLocationsModule"=>{"LocationList"=>{"Location"=>[{"LocationZip"=>"90048-1804", "LocationCity"=>"Los Angeles", "LocationState"=>"California", "LocationCountry"=>"United States", "LocationFacility"=>"Cedars Sinai Medical Center"}, {"LocationZip"=>"20892", "LocationCity"=>"Bethesda", "LocationState"=>"Maryland", "LocationCountry"=>"United States", "LocationFacility"=>"National Institutes of Health Clinical Center, 9000 Rockville Pike"}, {"LocationZip"=>"29646", "LocationCity"=>"Greenwood", "LocationState"=>"South Carolina", "LocationCountry"=>"United States", "LocationFacility"=>"Greenwood Genetics Center"}, {"LocationCity"=>"Ankara", "LocationCountry"=>"Turkey", "LocationFacility"=>"Ankara University School of Medicine"}]}, "OverallOfficialList"=>{"OverallOfficial"=>[{"OverallOfficialName"=>"Leslie G Biesecker, M.D.", "OverallOfficialRole"=>"Principal Investigator", "OverallOfficialAffiliation"=>"National Human Genome Research Institute (NHGRI)"}]}}, "SponsorCollaboratorsModule"=>{"LeadSponsor"=>{"LeadSponsorName"=>"National Human Genome Research Institute (NHGRI)", "LeadSponsorClass"=>"NIH"}, "ResponsibleParty"=>{"ResponsiblePartyType"=>"Sponsor"}}}}}}
