Nctid:
NCT00001536
Payload:
{"FullStudy"=>{"Rank"=>473435, "Study"=>{"DerivedSection"=>{"MiscInfoModule"=>{"VersionHolder"=>"December 01, 2023"}, "ConditionBrowseModule"=>{"ConditionMeshList"=>{"ConditionMesh"=>[{"ConditionMeshId"=>"D000000130", "ConditionMeshTerm"=>"Achondroplasia"}, {"ConditionMeshId"=>"D000004392", "ConditionMeshTerm"=>"Dwarfism"}]}, "ConditionAncestorList"=>{"ConditionAncestor"=>[{"ConditionAncestorId"=>"D000001848", "ConditionAncestorTerm"=>"Bone Diseases, Developmental"}, {"ConditionAncestorId"=>"D000001847", "ConditionAncestorTerm"=>"Bone Diseases"}, {"ConditionAncestorId"=>"D000009140", "ConditionAncestorTerm"=>"Musculoskeletal Diseases"}, {"ConditionAncestorId"=>"D000010009", "ConditionAncestorTerm"=>"Osteochondrodysplasias"}, {"ConditionAncestorId"=>"D000030342", "ConditionAncestorTerm"=>"Genetic Diseases, Inborn"}, {"ConditionAncestorId"=>"D000004700", "ConditionAncestorTerm"=>"Endocrine System Diseases"}]}, "ConditionBrowseLeafList"=>{"ConditionBrowseLeaf"=>[{"ConditionBrowseLeafId"=>"M7256", "ConditionBrowseLeafName"=>"Dwarfism", "ConditionBrowseLeafAsFound"=>"Dwarfism", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"M3184", "ConditionBrowseLeafName"=>"Achondroplasia", "ConditionBrowseLeafAsFound"=>"Achondroplasia", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"M4816", "ConditionBrowseLeafName"=>"Bone Diseases", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M4817", "ConditionBrowseLeafName"=>"Bone Diseases, Developmental", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M11787", "ConditionBrowseLeafName"=>"Musculoskeletal Diseases", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M12622", "ConditionBrowseLeafName"=>"Osteochondrodysplasias", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M11733", "ConditionBrowseLeafName"=>"Mucopolysaccharidosis IV", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M23376", "ConditionBrowseLeafName"=>"Genetic Diseases, Inborn", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M7552", "ConditionBrowseLeafName"=>"Endocrine System Diseases", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"T6034", "ConditionBrowseLeafName"=>"Quality of Life", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"T102", "ConditionBrowseLeafName"=>"Achondroplasia", "ConditionBrowseLeafAsFound"=>"Achondroplasia", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"T3909", "ConditionBrowseLeafName"=>"Mucopolysaccharidosis Type IV", "ConditionBrowseLeafRelevance"=>"low"}]}, "ConditionBrowseBranchList"=>{"ConditionBrowseBranch"=>[{"ConditionBrowseBranchName"=>"Musculoskeletal Diseases", "ConditionBrowseBranchAbbrev"=>"BC05"}, {"ConditionBrowseBranchName"=>"Diseases and Abnormalities at or Before Birth", "ConditionBrowseBranchAbbrev"=>"BC16"}, {"ConditionBrowseBranchName"=>"Gland and Hormone Related Diseases", "ConditionBrowseBranchAbbrev"=>"BC19"}, {"ConditionBrowseBranchName"=>"All Conditions", "ConditionBrowseBranchAbbrev"=>"All"}, {"ConditionBrowseBranchName"=>"Skin and Connective Tissue Diseases", "ConditionBrowseBranchAbbrev"=>"BC17"}, {"ConditionBrowseBranchName"=>"Nutritional and Metabolic Diseases", "ConditionBrowseBranchAbbrev"=>"BC18"}, {"ConditionBrowseBranchName"=>"Behaviors and Mental Disorders", "ConditionBrowseBranchAbbrev"=>"BXM"}, {"ConditionBrowseBranchName"=>"Rare Diseases", "ConditionBrowseBranchAbbrev"=>"Rare"}]}}}, "ProtocolSection"=>{"DesignModule"=>{"StudyType"=>"Observational", "EnrollmentInfo"=>{"EnrollmentCount"=>"2000"}}, "StatusModule"=>{"OverallStatus"=>"Completed", "StartDateStruct"=>{"StartDate"=>"August 1996"}, "ExpandedAccessInfo"=>{"HasExpandedAccess"=>"No"}, "StatusVerifiedDate"=>"August 1999", "CompletionDateStruct"=>{"CompletionDate"=>"July 2000"}, "LastUpdateSubmitDate"=>"March 3, 2008", "StudyFirstSubmitDate"=>"November 3, 1999", "StudyFirstSubmitQCDate"=>"December 9, 2002", "LastUpdatePostDateStruct"=>{"LastUpdatePostDate"=>"March 4, 2008", "LastUpdatePostDateType"=>"Estimate"}, "StudyFirstPostDateStruct"=>{"StudyFirstPostDate"=>"December 10, 2002", "StudyFirstPostDateType"=>"Estimate"}}, "OversightModule"=>{}, "ConditionsModule"=>{"KeywordList"=>{"Keyword"=>["Disability", "Dwarfism", "Ethics in Genetic Counseling", "Quality of Life", "Reproductive Issues", "Support Groups", "Achondroplasia"]}, "ConditionList"=>{"Condition"=>["Achondroplasia", "Dwarfism"]}}, "ReferencesModule"=>{"ReferenceList"=>{"Reference"=>[{"ReferencePMID"=>"7968151", "ReferenceType"=>"background", "ReferenceCitation"=>"Bellus GA, Escallon CS, Ortiz de Luna R, Shumway JB, Blakemore KJ, McIntosh I, Francomano CA. First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia. Lancet. 1994 Nov 26;344(8935):1511-2. doi: 10.1016/s0140-6736(94)90332-8. No abstract available."}, {"ReferencePMID"=>"7847369", "ReferenceType"=>"background", "ReferenceCitation"=>"Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet. 1995 Feb;56(2):368-73."}, {"ReferencePMID"=>"6881210", "ReferenceType"=>"background", "ReferenceCitation"=>"Elejalde BR, de Elejalde MM, Hamilton PR, Lombardi JM. Prenatal diagnosis in two pregnancies of an achondroplastic woman. Am J Med Genet. 1983 Jul;15(3):437-9. doi: 10.1002/ajmg.1320150308."}]}}, "DescriptionModule"=>{"BriefSummary"=>"Since the gene responsible for achondroplasia was identified in 1994, it has become possible to test for achondroplasia prenatally. Moreover, prenatal genetic testing for achondroplasia is relatively simple and is highly likely to be informative for any couple seeking testing. Four diagnostic laboratories in the U.S. are currently performing prenatal genetic testing for achondroplasia. Before prenatal genetic testing for achondroplasia becomes more widely available, however, it is essential that we learn more about the lives of affected individuals and their families, the implications of offering testing for achondroplasia, and the education and the counseling needs of this community. Personal interviews and stories have been published and discussed at national meetings (Ablon 1984). We conducted a pilot telephone interview survey of 15 individuals with achondroplasia. What is needed now is a large scale quantitative study of the community of little people and their families. To meet this need, we have developed a survey tool to analyze family relationships, quality of life, tendencies toward optimism or pessimism, information-avoiding or information-seeking behaviors, social support, involvement in Little People of America Inc. (LPA), self-esteem, sociodemographics and views on achondroplasia, religiousness, reproductive and family plans, genetic testing, and abortion. The self-administered survey will be completed nationally by a sample of persons with achondroplasia and their family members.", "DetailedDescription"=>"Since the gene responsible for achondroplasia was identified in 1994, it has become possible to test for achondroplasia prenatally. Moreover, prenatal genetic testing for achondroplasia is relatively simple and is highly likely to be informative for any couple seeking testing. Four diagnostic laboratories in the U.S. are currently performing prenatal genetic testing for achondroplasia. Before prenatal genetic testing for achondroplasia becomes more widely available, however, it is essential that we learn more about the lives of affected individuals and their families, the implications of offering testing for achondroplasia, and the education and the counseling needs of this community. Personal interviews and stories have been published and discussed at national meetings (Ablon 1984). We conducted a pilot telephone interview survey of 15 individuals with achondroplasia. What is needed now is a large scale quantitative study of the community of little people and their families. To meet this need, we have developed a survey tool to analyze family relationships, quality of life, tendencies toward optimism or pessimism, information-avoiding or information-seeking behaviors, social support, involvement in Little People of America Inc. (LPA), self-esteem, sociodemographics and views on achondroplasia, religiousness, reproductive and family plans, genetic testing, and abortion. The self-administered survey will be completed nationally by a sample of persons with achondroplasia and their family members."}, "EligibilityModule"=>{"Gender"=>"All", "StdAgeList"=>{"StdAge"=>["Child", "Adult", "Older Adult"]}, "HealthyVolunteers"=>"No", "EligibilityCriteria"=>"Adult individuals of either gender with achondroplasia and their first degree relatives (both short and average statured) of all ethnic and cultural backgrounds.\n\nNo short-statured persons with conditions other than achondroplasia.\n\nNo average-statured family members of short statured persons with conditions other than achondroplasia.\n\nNo minors less than 18 years of age."}, "IdentificationModule"=>{"NCTId"=>"NCT00001536", "BriefTitle"=>"Issues Surrounding Prenatal Genetic Testing for Achondroplasia", "Organization"=>{"OrgClass"=>"NIH", "OrgFullName"=>"National Institutes of Health Clinical Center (CC)"}, "OfficialTitle"=>"Issues Surrounding Prenatal Genetic Testing for Achondroplasia", "OrgStudyIdInfo"=>{"OrgStudyId"=>"960123"}, "SecondaryIdInfoList"=>{"SecondaryIdInfo"=>[{"SecondaryId"=>"96-HG-0123"}]}}, "ContactsLocationsModule"=>{"LocationList"=>{"Location"=>[{"LocationZip"=>"20892", "LocationCity"=>"Bethesda", "LocationState"=>"Maryland", "LocationCountry"=>"United States", "LocationFacility"=>"National Human Genome Research Institute (NHGRI)"}]}}, "SponsorCollaboratorsModule"=>{"LeadSponsor"=>{"LeadSponsorName"=>"National Human Genome Research Institute (NHGRI)", "LeadSponsorClass"=>"NIH"}}}}}}
