Nctid:
NCT00001153
Payload:
{"hasResults"=>false, "derivedSection"=>{"miscInfoModule"=>{"versionHolder"=>"2024-10-17"}, "conditionBrowseModule"=>{"meshes"=>[{"id"=>"D000000417", "term"=>"Albinism"}, {"id"=>"D000016117", "term"=>"Albinism, Ocular"}, {"id"=>"D000016115", "term"=>"Albinism, Oculocutaneous"}], "ancestors"=>[{"id"=>"D000015785", "term"=>"Eye Diseases, Hereditary"}, {"id"=>"D000005128", "term"=>"Eye Diseases"}, {"id"=>"D000030342", "term"=>"Genetic Diseases, Inborn"}, {"id"=>"D000000592", "term"=>"Amino Acid Metabolism, Inborn Errors"}, {"id"=>"D000008661", "term"=>"Metabolism, Inborn Errors"}, {"id"=>"D000012873", "term"=>"Skin Diseases, Genetic"}, {"id"=>"D000017496", "term"=>"Hypopigmentation"}, {"id"=>"D000010859", "term"=>"Pigmentation Disorders"}, {"id"=>"D000012871", "term"=>"Skin Diseases"}, {"id"=>"D000008659", "term"=>"Metabolic Diseases"}], "browseLeaves"=>[{"id"=>"M3764", "name"=>"Albinism", "asFound"=>"Albinism", "relevance"=>"HIGH"}, {"id"=>"M18595", "name"=>"Albinism, Ocular", "asFound"=>"Albinism, Ocular", "relevance"=>"HIGH"}, {"id"=>"M18593", "name"=>"Albinism, Oculocutaneous", "asFound"=>"Albinism, Oculocutaneous", "relevance"=>"HIGH"}, {"id"=>"M8271", "name"=>"Eye Diseases", "relevance"=>"LOW"}, {"id"=>"M18339", "name"=>"Eye Diseases, Hereditary", "relevance"=>"LOW"}, {"id"=>"M23686", "name"=>"Genetic Diseases, Inborn", "relevance"=>"LOW"}, {"id"=>"M11641", "name"=>"Metabolism, Inborn Errors", "relevance"=>"LOW"}, {"id"=>"M3932", "name"=>"Amino Acid Metabolism, Inborn Errors", "relevance"=>"LOW"}, {"id"=>"M15674", "name"=>"Skin Diseases", "relevance"=>"LOW"}, {"id"=>"M15676", "name"=>"Skin Diseases, Genetic", "relevance"=>"LOW"}, {"id"=>"M19761", "name"=>"Hypopigmentation", "relevance"=>"LOW"}, {"id"=>"M13754", "name"=>"Pigmentation Disorders", "relevance"=>"LOW"}, {"id"=>"M11639", "name"=>"Metabolic Diseases", "relevance"=>"LOW"}, {"id"=>"T263", "name"=>"Albinism", "asFound"=>"Albinism", "relevance"=>"HIGH"}, {"id"=>"T4204", "name"=>"Oculocutaneous Albinism", "asFound"=>"Albinism, Oculocutaneous", "relevance"=>"HIGH"}, {"id"=>"T3036", "name"=>"Inborn Amino Acid Metabolism Disorder", "relevance"=>"LOW"}, {"id"=>"T2945", "name"=>"Hypomelanotic Disorder", "relevance"=>"LOW"}], "browseBranches"=>[{"name"=>"Eye Diseases", "abbrev"=>"BC11"}, {"name"=>"Diseases and Abnormalities at or Before Birth", "abbrev"=>"BC16"}, {"name"=>"Skin and Connective Tissue Diseases", "abbrev"=>"BC17"}, {"name"=>"Nutritional and Metabolic Diseases", "abbrev"=>"BC18"}, {"name"=>"All Conditions", "abbrev"=>"All"}, {"name"=>"Symptoms and General Pathology", "abbrev"=>"BC23"}, {"name"=>"Rare Diseases", "abbrev"=>"Rare"}]}}, "protocolSection"=>{"designModule"=>{"studyType"=>"OBSERVATIONAL", "enrollmentInfo"=>{"count"=>130}}, "statusModule"=>{"overallStatus"=>"COMPLETED", "startDateStruct"=>{"date"=>"1976-06"}, "expandedAccessInfo"=>{"hasExpandedAccess"=>false}, "statusVerifiedDate"=>"1999-05", "completionDateStruct"=>{"date"=>"2000-05"}, "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"=>["Albinism", "Ocular Albinism", "Oculocutaneous Albinism", "Tyrosinase Negative", "Tyrosinase Positive"], "conditions"=>["Albinism", "Albinism, Ocular", "Albinism, Oculocutaneous"]}, "referencesModule"=>{"references"=>[{"pmid"=>"1651299", "type"=>"BACKGROUND", "citation"=>"Apkarian P, Shallo-Hoffmann J. VEP projections in congenital nystagmus; VEP asymmetry in albinism: a comparison study. Invest Ophthalmol Vis Sci. 1991 Aug;32(9):2653-61. Erratum In: Invest Ophthalmol Vis Sci 1992 Mar;33(3):691-2."}, {"pmid"=>"8115151", "type"=>"BACKGROUND", "citation"=>"Bouzas EA, Caruso RC, Drews-Bankiewicz MA, Kaiser-Kupfer MI. Evoked potential analysis of visual pathways in human albinism. Ophthalmology. 1994 Feb;101(2):309-14. doi: 10.1016/s0161-6420(13)31336-0."}]}, "descriptionModule"=>{"briefSummary"=>"To study the relationship between visual function and ocular (iris, retina/choroidal) pigmentation in patients with albinism and other hypomelanotic disorders. To identify the carrier state in relatives of patients with ocular albinism.", "detailedDescription"=>"Visual function and ocular pigmentation are being studied in patients with albinism and other disorders associated with hypopigmentation. The degree of ocular pigmentation is assessed clinically by estimating the melanin content of the iris, retinal pigment epithelium, and choroid. Visual function is measured in the conventional manner to study central vision, and electrophysiological methods to detect a misrouting of the visual pathways. The purpose of this study is to document the visual deficit and the pigmentary changes of patients with albinism, to observe their natural course, and to determine whether misrouting of the visual pathways is present and is correlated with pigmentation."}, "eligibilityModule"=>{"sex"=>"ALL", "stdAges"=>["CHILD", "ADULT", "OLDER_ADULT"], "healthyVolunteers"=>false, "eligibilityCriteria"=>"Patients have been recruited into the study by referral from an ophthalmologist or pediatrician.\n\nEntrance into the study was dependent upon clinical evidence of decreased or absent pigmentation in skin, hair, and/or eyes.\n\nThe definition was purposefully broad to include the broad range of phenotype variations and clinical heterogeneity.\n\nThe purpose of the study id to be able to document iris and retina/choroidal pigmentation and correlated these finding with visual function."}, "identificationModule"=>{"nctId"=>"NCT00001153", "briefTitle"=>"Visual Function and Ocular Pigmentation in Albinism", "organization"=>{"class"=>"NIH", "fullName"=>"National Institutes of Health Clinical Center (CC)"}, "officialTitle"=>"Visual Function and Ocular Pigmentation in Albinism", "orgStudyIdInfo"=>{"id"=>"760207"}, "secondaryIdInfos"=>[{"id"=>"76-EI-0207"}]}, "contactsLocationsModule"=>{"locations"=>[{"zip"=>"20892", "city"=>"Bethesda", "state"=>"Maryland", "country"=>"United States", "facility"=>"National Eye Institute (NEI)", "geoPoint"=>{"lat"=>38.98067, "lon"=>-77.10026}}]}, "sponsorCollaboratorsModule"=>{"leadSponsor"=>{"name"=>"National Eye Institute (NEI)", "class"=>"NIH"}}}}
