Nctid:
NCT00001975
Payload:
{"hasResults"=>false, "derivedSection"=>{"miscInfoModule"=>{"versionHolder"=>"2024-12-20"}, "conditionBrowseModule"=>{"meshes"=>[{"id"=>"D014402", "term"=>"Tuberous Sclerosis"}, {"id"=>"D012598", "term"=>"Sclerosis"}], "ancestors"=>[{"id"=>"D010335", "term"=>"Pathologic Processes"}, {"id"=>"D006222", "term"=>"Hamartoma"}, {"id"=>"D009369", "term"=>"Neoplasms"}, {"id"=>"D009378", "term"=>"Neoplasms, Multiple Primary"}, {"id"=>"D009386", "term"=>"Neoplastic Syndromes, Hereditary"}, {"id"=>"D065703", "term"=>"Malformations of Cortical Development, Group I"}, {"id"=>"D054220", "term"=>"Malformations of Cortical Development"}, {"id"=>"D009421", "term"=>"Nervous System Malformations"}, {"id"=>"D009422", "term"=>"Nervous System Diseases"}, {"id"=>"D020752", "term"=>"Neurocutaneous Syndromes"}, {"id"=>"D020271", "term"=>"Heredodegenerative Disorders, Nervous System"}, {"id"=>"D019636", "term"=>"Neurodegenerative Diseases"}, {"id"=>"D000013", "term"=>"Congenital Abnormalities"}, {"id"=>"D030342", "term"=>"Genetic Diseases, Inborn"}], "browseLeaves"=>[{"id"=>"M16355", "name"=>"Syndrome", "relevance"=>"LOW"}, {"id"=>"M15415", "name"=>"Sclerosis", "asFound"=>"Sclerosis", "relevance"=>"HIGH"}, {"id"=>"M12331", "name"=>"Neoplastic Syndromes, Hereditary", "relevance"=>"LOW"}, {"id"=>"M15681", "name"=>"Skin Neoplasms", "relevance"=>"LOW"}, {"id"=>"M30145", "name"=>"Carcinogenesis", "relevance"=>"LOW"}, {"id"=>"M17152", "name"=>"Tuberous Sclerosis", "asFound"=>"Tuberous Sclerosis", "relevance"=>"HIGH"}, {"id"=>"M5720", "name"=>"Cell Transformation, Neoplastic", "relevance"=>"LOW"}, {"id"=>"M9314", "name"=>"Hamartoma", "relevance"=>"LOW"}, {"id"=>"M12323", "name"=>"Neoplasms, Multiple Primary", "relevance"=>"LOW"}, {"id"=>"M12", "name"=>"Congenital Abnormalities", "relevance"=>"LOW"}, {"id"=>"M27589", "name"=>"Malformations of Cortical Development", "relevance"=>"LOW"}, {"id"=>"M12365", "name"=>"Nervous System Malformations", "relevance"=>"LOW"}, {"id"=>"M22509", "name"=>"Neurocutaneous Syndromes", "relevance"=>"LOW"}, {"id"=>"M22092", "name"=>"Heredodegenerative Disorders, Nervous System", "relevance"=>"LOW"}, {"id"=>"M21558", "name"=>"Neurodegenerative Diseases", "relevance"=>"LOW"}, {"id"=>"M23686", "name"=>"Genetic Diseases, Inborn", "relevance"=>"LOW"}, {"id"=>"T5751", "name"=>"Tuberous Sclerosis Complex", "asFound"=>"Tuberous Sclerosis", "relevance"=>"HIGH"}], "browseBranches"=>[{"name"=>"Symptoms and General Pathology", "abbrev"=>"BC23"}, {"name"=>"All Conditions", "abbrev"=>"All"}, {"name"=>"Neoplasms", "abbrev"=>"BC04"}, {"name"=>"Diseases and Abnormalities at or Before Birth", "abbrev"=>"BC16"}, {"name"=>"Skin and Connective Tissue Diseases", "abbrev"=>"BC17"}, {"name"=>"Nervous System Diseases", "abbrev"=>"BC10"}, {"name"=>"Rare Diseases", "abbrev"=>"Rare"}]}}, "protocolSection"=>{"designModule"=>{"studyType"=>"OBSERVATIONAL", "designInfo"=>{"timePerspective"=>"PROSPECTIVE", "observationalModel"=>"COHORT"}, "enrollmentInfo"=>{"type"=>"ESTIMATED", "count"=>400}}, "statusModule"=>{"overallStatus"=>"RECRUITING", "startDateStruct"=>{"date"=>"2000-01-26", "type"=>"ACTUAL"}, "expandedAccessInfo"=>{"hasExpandedAccess"=>false}, "statusVerifiedDate"=>"2024-07-26", "lastUpdateSubmitDate"=>"2024-12-18", "studyFirstSubmitDate"=>"2000-01-20", "studyFirstSubmitQcDate"=>"2000-01-20", "lastUpdatePostDateStruct"=>{"date"=>"2024-12-19", "type"=>"ESTIMATED"}, "studyFirstPostDateStruct"=>{"date"=>"2000-01-21", "type"=>"ESTIMATED"}}, "outcomesModule"=>{"primaryOutcomes"=>[{"measure"=>"1.Identify the tumor cells in cutaneous and mucosal tumors in patients with TSC through LOH studies on microdissected cell populations", "timeFrame"=>"ongoing", "description"=>"natural history"}]}, "oversightModule"=>{"isFdaRegulatedDrug"=>false, "isFdaRegulatedDevice"=>false}, "conditionsModule"=>{"keywords"=>["Skin Biopsy", "Familial Tumor Syndrome", "Cell Growth", "Loss of Heterozygosity", "Cytokines", "Natural History", "Tuberous Sclerosis"], "conditions"=>["Tuberous Sclerosis"]}, "referencesModule"=>{"references"=>[{"pmid"=>"8129414", "type"=>"BACKGROUND", "citation"=>"Kwiatkowski DJ, Short MP. Tuberous sclerosis. Arch Dermatol. 1994 Mar;130(3):348-54."}, {"pmid"=>"9809574", "type"=>"BACKGROUND", "citation"=>"Weiner DM, Ewalt DH, Roach ES, Hensle TW. The tuberous sclerosis complex: a comprehensive review. J Am Coll Surg. 1998 Nov;187(5):548-61. doi: 10.1016/s1072-7515(98)00239-7. No abstract available."}, {"pmid"=>"8776349", "type"=>"BACKGROUND", "citation"=>"Webb DW, Clarke A, Fryer A, Osborne JP. The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol. 1996 Jul;135(1):1-5."}], "seeAlsoLinks"=>[{"url"=>"https://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_2000-H-0051.html", "label"=>"NIH Clinical Center Detailed Web Page"}]}, "descriptionModule"=>{"briefSummary"=>"Tuberous sclerosis is a rare, hereditary disease in which patients develop multiple tumors. Although not cancerous, the tumors can affect various organs, including the heart, lungs, kidneys, skin, and central nervous system, with serious medical consequences. The severity of disease varies greatly among patients, from barely detectable to fatal. This study will investigate what causes skin tumors to develop in patients with this disease.\n\nPatients with tuberous sclerosis 18 years and older may enroll in this study. Participants will undergo a medical history and thorough skin examination by a dermatologist. Those with skin tumors will be asked to undergo biopsy (tissue removal) of up to eight lesions, under a local anesthetic, for research purposes. The biopsies will all be done the same day. The tissue samples will be used for: examination of genetic changes, measurement of certain proteins and other substances, and growing in culture to study the genetics of tuberous sclerosis.\n\n...", "detailedDescription"=>"Patients with tuberous sclerosis develop benign cutaneous tumors that are typically multiple in number and location. These tumors include facial angiofibromas, forehead plaques, shagreen patches, periungual fibromas, and gingival fibromas. The tumors are permanent, slow growing, and often disfiguring. The purpose of this study is to elucidate the molecular basis for these tumors. Specifically, we plan to identify the genetically altered cells in these hamartomatous lesions, and to quantify factors (e.g. cytokines) produced by these cells which induce the growth of these tumors. To accomplish this, we plan to obtain samples of these cutaneous tumors, to test tumor DNA for loss of heterozygosity, and to measure RNA and protein expression levels."}, "eligibilityModule"=>{"sex"=>"ALL", "stdAges"=>["ADULT", "OLDER_ADULT"], "maximumAge"=>"90 years", "minimumAge"=>"18 years", "samplingMethod"=>"NON_PROBABILITY_SAMPLE", "studyPopulation"=>"Patients will be those already diagnosed with TSC (definite or possible) based on clinical criteria and/or genetic testing, and ranging in age from 18 to 90 years old.", "healthyVolunteers"=>false, "eligibilityCriteria"=>"* INCLUSION CRITERIA:\n\nPatients will be those already diagnosed with TSC (definite, probable, or possible) based on clinical criteria and/or genetic testing, and ranging in age from 18 to 90 years old.\n\nThe clinical features of TSC considered of major significance are: facial angiofibromas or forehead plaque, nontraumatic periungual fibromas, three or more hypomelanotic macules, shagreen patch, multiple retinal nodular hamartomas, cortical tuber, subependymal nodule, subependymal giant cell astrocytoma, cardiac rhabdomyoma, lymphangioleiomyomatosis, and renal angiomyolipoma.\n\nThe minor features of TSC are: multiple randomly distributed pits in dental enamel, hamartomatous rectal polyps, bone cysts, cerebral white matter radial migration lines, gingival fibromas, nonrenal hamartoma, retinal achromic patch, confetti skin lesions, and multiple renal cysts (5). Definite TSC is diagnosed by the presence of two major features or one major feature plus two minor features. Probable TSC is diagnosed by the presence of one major feature and one minor feature. Possible TSC is diagnosed by the presence of either one major feature or two or more minor features. Patients will not be preselected for skin lesions, but about 80% of patients with TSC are expected to have skin lesions.\n\nEXCLUSION CRITERIA:\n\nInability to give informed consent.\n\nTendency to keloid formation.\n\nAllergy to anesthetics.\n\nBleeding abnormality."}, "identificationModule"=>{"nctId"=>"NCT00001975", "briefTitle"=>"Study of Skin Tumors in Tuberous Sclerosis", "organization"=>{"class"=>"NIH", "fullName"=>"National Institutes of Health Clinical Center (CC)"}, "officialTitle"=>"Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis", "orgStudyIdInfo"=>{"id"=>"000051"}, "secondaryIdInfos"=>[{"id"=>"00-H-0051"}]}, "armsInterventionsModule"=>{"armGroups"=>[{"label"=>"Group 1", "description"=>"Patients will be those already diagnosed with TSC (definite or possible)"}]}, "contactsLocationsModule"=>{"locations"=>[{"zip"=>"20892", "city"=>"Bethesda", "state"=>"Maryland", "status"=>"RECRUITING", "country"=>"United States", "facility"=>"National Institutes of Health Clinical Center", "geoPoint"=>{"lat"=>38.98067, "lon"=>-77.10026}}], "centralContacts"=>[{"name"=>"Tatyana Worthy, R.N.", "role"=>"CONTACT", "email"=>"worthyt@mail.nih.gov", "phone"=>"(301) 827-1376"}, {"name"=>"Joel Moss, M.D.", "role"=>"CONTACT", "email"=>"mossj@nhlbi.nih.gov", "phone"=>"(301) 496-1597"}], "overallOfficials"=>[{"name"=>"Joel Moss, M.D.", "role"=>"PRINCIPAL_INVESTIGATOR", "affiliation"=>"National Heart, Lung, and Blood Institute (NHLBI)"}]}, "ipdSharingStatementModule"=>{"ipdSharing"=>"UNDECIDED", "description"=>"This is a new requirement and the sharing of IPD is not discussed in the protocol."}, "sponsorCollaboratorsModule"=>{"leadSponsor"=>{"name"=>"National Heart, Lung, and Blood Institute (NHLBI)", "class"=>"NIH"}, "collaborators"=>[{"name"=>"Uniformed Services University of the Health Sciences", "class"=>"FED"}], "responsibleParty"=>{"type"=>"SPONSOR"}}}}
