Nctid:
NCT00001871
Payload:
{"FullStudy"=>{"Rank"=>472692, "Study"=>{"DerivedSection"=>{"MiscInfoModule"=>{"VersionHolder"=>"November 27, 2023"}, "ConditionBrowseModule"=>{"ConditionMeshList"=>{"ConditionMesh"=>[{"ConditionMeshId"=>"D000009136", "ConditionMeshTerm"=>"Muscular Dystrophies"}, {"ConditionMeshId"=>"D000039141", "ConditionMeshTerm"=>"Muscular Dystrophy, Oculopharyngeal"}, {"ConditionMeshId"=>"D000009202", "ConditionMeshTerm"=>"Cardiomyopathies"}, {"ConditionMeshId"=>"D000002312", "ConditionMeshTerm"=>"Cardiomyopathy, Hypertrophic"}, {"ConditionMeshId"=>"D000006984", "ConditionMeshTerm"=>"Hypertrophy"}]}, "ConditionAncestorList"=>{"ConditionAncestor"=>[{"ConditionAncestorId"=>"D000006331", "ConditionAncestorTerm"=>"Heart Diseases"}, {"ConditionAncestorId"=>"D000002318", "ConditionAncestorTerm"=>"Cardiovascular Diseases"}, {"ConditionAncestorId"=>"D000020966", "ConditionAncestorTerm"=>"Muscular Disorders, Atrophic"}, {"ConditionAncestorId"=>"D000009135", "ConditionAncestorTerm"=>"Muscular Diseases"}, {"ConditionAncestorId"=>"D000009140", "ConditionAncestorTerm"=>"Musculoskeletal Diseases"}, {"ConditionAncestorId"=>"D000009468", "ConditionAncestorTerm"=>"Neuromuscular Diseases"}, {"ConditionAncestorId"=>"D000009422", "ConditionAncestorTerm"=>"Nervous System Diseases"}, {"ConditionAncestorId"=>"D000030342", "ConditionAncestorTerm"=>"Genetic Diseases, Inborn"}, {"ConditionAncestorId"=>"D000020763", "ConditionAncestorTerm"=>"Pathological Conditions, Anatomical"}, {"ConditionAncestorId"=>"D000001020", "ConditionAncestorTerm"=>"Aortic Stenosis, Subvalvular"}, {"ConditionAncestorId"=>"D000001024", "ConditionAncestorTerm"=>"Aortic Valve Stenosis"}, {"ConditionAncestorId"=>"D000082862", "ConditionAncestorTerm"=>"Aortic Valve Disease"}, {"ConditionAncestorId"=>"D000006349", "ConditionAncestorTerm"=>"Heart Valve Diseases"}]}, "ConditionBrowseLeafList"=>{"ConditionBrowseLeaf"=>[{"ConditionBrowseLeafId"=>"M11783", "ConditionBrowseLeafName"=>"Muscular Dystrophies", "ConditionBrowseLeafAsFound"=>"Muscular Dystrophy", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"M11844", "ConditionBrowseLeafName"=>"Cardiomyopathies", "ConditionBrowseLeafAsFound"=>"Cardiomyopathy", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"M5258", "ConditionBrowseLeafName"=>"Cardiomyopathy, Hypertrophic", "ConditionBrowseLeafAsFound"=>"Cardiomyopathy, Hypertrophic", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"M9725", "ConditionBrowseLeafName"=>"Hypertrophy", "ConditionBrowseLeafAsFound"=>"Hypertrophic", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"M12", "ConditionBrowseLeafName"=>"Congenital Abnormalities", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M24484", "ConditionBrowseLeafName"=>"Muscular Dystrophy, Oculopharyngeal", "ConditionBrowseLeafAsFound"=>"Muscular Dystrophy, Oculopharyngeal", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"M9109", "ConditionBrowseLeafName"=>"Heart Diseases", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M4279", "ConditionBrowseLeafName"=>"Atrophy", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M11782", "ConditionBrowseLeafName"=>"Muscular Diseases", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M22387", "ConditionBrowseLeafName"=>"Muscular Disorders, Atrophic", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M11787", "ConditionBrowseLeafName"=>"Musculoskeletal Diseases", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M12101", "ConditionBrowseLeafName"=>"Neuromuscular Diseases", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M23376", "ConditionBrowseLeafName"=>"Genetic Diseases, Inborn", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M22209", "ConditionBrowseLeafName"=>"Pathological Conditions, Anatomical", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M6165", "ConditionBrowseLeafName"=>"Constriction, Pathologic", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M4030", "ConditionBrowseLeafName"=>"Aortic Valve Stenosis", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M2380", "ConditionBrowseLeafName"=>"Aortic Valve Disease", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"M9127", "ConditionBrowseLeafName"=>"Heart Valve Diseases", "ConditionBrowseLeafRelevance"=>"low"}, {"ConditionBrowseLeafId"=>"T3963", "ConditionBrowseLeafName"=>"Muscular Dystrophy", "ConditionBrowseLeafAsFound"=>"Muscular Dystrophy", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"T4216", "ConditionBrowseLeafName"=>"Oculopharyngeal Muscular Dystrophy", "ConditionBrowseLeafAsFound"=>"Muscular Dystrophy, Oculopharyngeal", "ConditionBrowseLeafRelevance"=>"high"}, {"ConditionBrowseLeafId"=>"T449", "ConditionBrowseLeafName"=>"Aortic Valve Stenosis", "ConditionBrowseLeafRelevance"=>"low"}]}, "ConditionBrowseBranchList"=>{"ConditionBrowseBranch"=>[{"ConditionBrowseBranchName"=>"Musculoskeletal Diseases", "ConditionBrowseBranchAbbrev"=>"BC05"}, {"ConditionBrowseBranchName"=>"Nervous System Diseases", "ConditionBrowseBranchAbbrev"=>"BC10"}, {"ConditionBrowseBranchName"=>"Diseases and Abnormalities at or Before Birth", "ConditionBrowseBranchAbbrev"=>"BC16"}, {"ConditionBrowseBranchName"=>"All Conditions", "ConditionBrowseBranchAbbrev"=>"All"}, {"ConditionBrowseBranchName"=>"Heart and Blood Diseases", "ConditionBrowseBranchAbbrev"=>"BC14"}, {"ConditionBrowseBranchName"=>"Symptoms and General Pathology", "ConditionBrowseBranchAbbrev"=>"BC23"}, {"ConditionBrowseBranchName"=>"Rare Diseases", "ConditionBrowseBranchAbbrev"=>"Rare"}]}}}, "ProtocolSection"=>{"DesignModule"=>{"StudyType"=>"Observational", "EnrollmentInfo"=>{"EnrollmentCount"=>"80"}}, "StatusModule"=>{"OverallStatus"=>"Completed", "StartDateStruct"=>{"StartDate"=>"January 1999"}, "ExpandedAccessInfo"=>{"HasExpandedAccess"=>"No"}, "StatusVerifiedDate"=>"December 1999", "CompletionDateStruct"=>{"CompletionDate"=>"March 2001"}, "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"=>["Genetic Mutations", "Hypertrophic Cardiomyopathy", "Oculopharyngeal Muscular Dystrophy"]}, "ConditionList"=>{"Condition"=>["Cardiomyopathy, Hypertrophic", "Muscular Dystrophy, Oculopharyngeal"]}}, "ReferencesModule"=>{"ReferenceList"=>{"Reference"=>[{"ReferencePMID"=>"7671349", "ReferenceType"=>"background", "ReferenceCitation"=>"Wigle ED, Rakowski H, Kimball BP, Williams WG. Hypertrophic cardiomyopathy. Clinical spectrum and treatment. Circulation. 1995 Oct 1;92(7):1680-92. doi: 10.1161/01.cir.92.7.1680."}, {"ReferencePMID"=>"2811944", "ReferenceType"=>"background", "ReferenceCitation"=>"Jarcho JA, McKenna W, Pare JA, Solomon SD, Holcombe RF, Dickie S, Levi T, Donis-Keller H, Seidman JG, Seidman CE. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med. 1989 Nov 16;321(20):1372-8. doi: 10.1056/NEJM198911163212005."}, {"ReferencePMID"=>"8358441", "ReferenceType"=>"background", "ReferenceCitation"=>"Carrier L, Hengstenberg C, Beckmann JS, Guicheney P, Dufour C, Bercovici J, Dausse E, Berebbi-Bertrand I, Wisnewsky C, Pulvenis D, et al. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nat Genet. 1993 Jul;4(3):311-3. doi: 10.1038/ng0793-311."}]}}, "DescriptionModule"=>{"BriefSummary"=>"Hypertrophic cardiomyopathy (HCM) is a genetically inherited disease affecting the heart. It causes thickening of heart muscle, especially the chamber responsible for pumping blood out of the heart, the left ventricle. This condition can cause patients to experience symptoms of chest pain, shortness of breath, fatigue, and heart beat palpitations. Researchers believe the disease may be caused by abnormalities in the genes responsible for producing proteins of the heart muscle.\n\nOculopharyngeal muscular dystrophy (OPMD) is another genetically inherited disease. This condition affects the muscles of the eyes and throat causing symptoms of weak eye movements, difficulty swallowing and speaking, and weakness of the arms and legs.\n\nIn previous studies researchers have found that several patients with hypertrophic cardiomyopathy (HCM) also had oculopharyngeal muscular dystrophy (OPMD). Researchers are interested in learning more about how these two diseases are associated with each other.\n\nIn this study, researcher plan to collect samples of muscles (skeletal muscle biopsies) from patients belonging to families in which several members have inherited one or both of these diseases. The muscle samples will be used to link the muscle abnormalities with the specific genetic mutations.\n\nPatients participating in this study may not be directly benefited by it. However, information gathered because of this study may be used to develop better techniques for diagnosing and treating these conditions.", "DetailedDescription"=>"Mutations of the fast alpha-tropomyosin gene cause hypertrophic cardiomyopathy (HCM), and are also expressed in skeletal muscle. However, the skeletal phenotype is undetermined. We have identified three families in which HCM is caused by an alpha-tropomyosin mutation. Several family members of one of these kindreds have also inherited a distinct skeletal myopathy called oculopharyngeal muscular dystrophy (OPMD) which is caused by mutations of the poly(A) binding protein-2 gene (PABP2). The pathologic hallmark of this disease is unique nuclear filament inclusions in skeletal muscle fibers. It is possible that the skeletal muscle phenotype is more severe when the two diseases occur in the same patient. We wish to perform skeletal muscle biopsies to determine the skeletal myopathy in patients with alpha-tropomyosin, in patients with PABP2 gene mutation, and in patients who have inherited both diseases."}, "EligibilityModule"=>{"Gender"=>"All", "StdAgeList"=>{"StdAge"=>["Child", "Adult", "Older Adult"]}, "HealthyVolunteers"=>"No", "EligibilityCriteria"=>"Patients will be of either gender, aged 10-80 years old, in whom alpha-tropomyosin and PABP2 genotypes have been determined under protocols 87-H-0057 and 98-H-0100.\n\nNo bleeding diathesis.\n\nNegative urine test for pregnancy.\n\nNo skin infection at site of biopsy."}, "IdentificationModule"=>{"NCTId"=>"NCT00001871", "BriefTitle"=>"Study of Muscle Abnormalities in Patients With Specific Genetic Mutations", "Organization"=>{"OrgClass"=>"NIH", "OrgFullName"=>"National Institutes of Health Clinical Center (CC)"}, "OfficialTitle"=>"An Exploratory Study of Skeletal Muscle Abnormalities in Patients With Mutations in Alpha-Tropomyosin and PABP2 Genes", "OrgStudyIdInfo"=>{"OrgStudyId"=>"990036"}, "SecondaryIdInfoList"=>{"SecondaryIdInfo"=>[{"SecondaryId"=>"99-H-0036"}]}}, "ContactsLocationsModule"=>{"LocationList"=>{"Location"=>[{"LocationZip"=>"20892", "LocationCity"=>"Bethesda", "LocationState"=>"Maryland", "LocationCountry"=>"United States", "LocationFacility"=>"National Heart, Lung and Blood Institute (NHLBI)"}]}}, "SponsorCollaboratorsModule"=>{"LeadSponsor"=>{"LeadSponsorName"=>"National Heart, Lung, and Blood Institute (NHLBI)", "LeadSponsorClass"=>"NIH"}}}}}}
