Nctid:
NCT00001238
Payload:
{"hasResults"=>false, "derivedSection"=>{"miscInfoModule"=>{"versionHolder"=>"2024-09-05"}, "conditionBrowseModule"=>{"meshes"=>[{"id"=>"D000002292", "term"=>"Carcinoma, Renal Cell"}, {"id"=>"D000007680", "term"=>"Kidney Neoplasms"}, {"id"=>"D000006623", "term"=>"Von Hippel-Lindau Disease"}], "ancestors"=>[{"id"=>"D000002277", "term"=>"Carcinoma"}, {"id"=>"D000009375", "term"=>"Neoplasms, Glandular and Epithelial"}, {"id"=>"D000009370", "term"=>"Neoplasms by Histologic Type"}, {"id"=>"D000009369", "term"=>"Neoplasms"}, {"id"=>"D000000230", "term"=>"Adenocarcinoma"}, {"id"=>"D000014571", "term"=>"Urologic Neoplasms"}, {"id"=>"D000014565", "term"=>"Urogenital Neoplasms"}, {"id"=>"D000009371", "term"=>"Neoplasms by Site"}, {"id"=>"D000052776", "term"=>"Female Urogenital Diseases"}, {"id"=>"D000005261", "term"=>"Female Urogenital Diseases and Pregnancy Complications"}, {"id"=>"D000091642", "term"=>"Urogenital Diseases"}, {"id"=>"D000007674", "term"=>"Kidney Diseases"}, {"id"=>"D000014570", "term"=>"Urologic Diseases"}, {"id"=>"D000052801", "term"=>"Male Urogenital Diseases"}, {"id"=>"D000020752", "term"=>"Neurocutaneous Syndromes"}, {"id"=>"D000009422", "term"=>"Nervous System Diseases"}, {"id"=>"D000000798", "term"=>"Angiomatosis"}, {"id"=>"D000014652", "term"=>"Vascular Diseases"}, {"id"=>"D000002318", "term"=>"Cardiovascular Diseases"}, {"id"=>"D000072661", "term"=>"Ciliopathies"}, {"id"=>"D000000015", "term"=>"Abnormalities, Multiple"}, {"id"=>"D000000013", "term"=>"Congenital Abnormalities"}, {"id"=>"D000030342", "term"=>"Genetic Diseases, Inborn"}], "browseLeaves"=>[{"id"=>"M5534", "name"=>"Carcinoma", "relevance"=>"LOW"}, {"id"=>"M5548", "name"=>"Carcinoma, Renal Cell", "asFound"=>"Renal Cancer", "relevance"=>"HIGH"}, {"id"=>"M10703", "name"=>"Kidney Neoplasms", "asFound"=>"Renal Cancer", "relevance"=>"HIGH"}, {"id"=>"M13578", "name"=>"Pheochromocytoma", "relevance"=>"LOW"}, {"id"=>"M9699", "name"=>"Von Hippel-Lindau Disease", "asFound"=>"Von Hippel-", "relevance"=>"HIGH"}, {"id"=>"M20377", "name"=>"Leiomyomatosis", "relevance"=>"LOW"}, {"id"=>"M12320", "name"=>"Neoplasms, Glandular and Epithelial", "relevance"=>"LOW"}, {"id"=>"M12315", "name"=>"Neoplasms by Histologic Type", "relevance"=>"LOW"}, {"id"=>"M3585", "name"=>"Adenocarcinoma", "relevance"=>"LOW"}, {"id"=>"M17320", "name"=>"Urologic Neoplasms", "relevance"=>"LOW"}, {"id"=>"M17315", "name"=>"Urogenital Neoplasms", "relevance"=>"LOW"}, {"id"=>"M2875", "name"=>"Urogenital Diseases", "relevance"=>"LOW"}, {"id"=>"M27093", "name"=>"Female Urogenital Diseases", "relevance"=>"LOW"}, {"id"=>"M14127", "name"=>"Pregnancy Complications", "relevance"=>"LOW"}, {"id"=>"M8399", "name"=>"Female Urogenital Diseases and Pregnancy Complications", "relevance"=>"LOW"}, {"id"=>"M10698", "name"=>"Kidney Diseases", "relevance"=>"LOW"}, {"id"=>"M17319", "name"=>"Urologic Diseases", "relevance"=>"LOW"}, {"id"=>"M27095", "name"=>"Male Urogenital Diseases", "relevance"=>"LOW"}, {"id"=>"M16355", "name"=>"Syndrome", "relevance"=>"LOW"}, {"id"=>"M22509", "name"=>"Neurocutaneous Syndromes", "relevance"=>"LOW"}, {"id"=>"M4126", "name"=>"Angiomatosis", "relevance"=>"LOW"}, {"id"=>"M17400", "name"=>"Vascular Diseases", "relevance"=>"LOW"}, {"id"=>"M1076", "name"=>"Ciliopathies", "relevance"=>"LOW"}, {"id"=>"M12", "name"=>"Congenital Abnormalities", "relevance"=>"LOW"}, {"id"=>"M14", "name"=>"Abnormalities, Multiple", "relevance"=>"LOW"}, {"id"=>"M23686", "name"=>"Genetic Diseases, Inborn", "relevance"=>"LOW"}, {"id"=>"T4906", "name"=>"Renal Cell Carcinoma", "asFound"=>"Renal Cancer", "relevance"=>"HIGH"}, {"id"=>"T1341", "name"=>"Clear Cell Renal Cell Carcinoma", "asFound"=>"Renal Cell Carcinoma", "relevance"=>"HIGH"}, {"id"=>"T4530", "name"=>"Pheochromocytoma", "relevance"=>"LOW"}, {"id"=>"T5876", "name"=>"Von Hippel-Lindau Disease", "asFound"=>"Von Hippel-", "relevance"=>"HIGH"}, {"id"=>"T2771", "name"=>"Hereditary Renal Cell Carcinoma", "asFound"=>"Familial Renal Cancer", "relevance"=>"HIGH"}, {"id"=>"T2757", "name"=>"Hereditary Leiomyomatosis and Renal Cell Cancer", "relevance"=>"LOW"}], "browseBranches"=>[{"name"=>"Neoplasms", "abbrev"=>"BC04"}, {"name"=>"All Conditions", "abbrev"=>"All"}, {"name"=>"Urinary Tract, Sexual Organs, and Pregnancy Conditions", "abbrev"=>"BXS"}, {"name"=>"Nervous System Diseases", "abbrev"=>"BC10"}, {"name"=>"Heart and Blood Diseases", "abbrev"=>"BC14"}, {"name"=>"Diseases and Abnormalities at or Before Birth", "abbrev"=>"BC16"}, {"name"=>"Symptoms and General Pathology", "abbrev"=>"BC23"}, {"name"=>"Skin and Connective Tissue Diseases", "abbrev"=>"BC17"}, {"name"=>"Rare Diseases", "abbrev"=>"Rare"}]}}, "protocolSection"=>{"designModule"=>{"studyType"=>"OBSERVATIONAL", "designInfo"=>{"timePerspective"=>"PROSPECTIVE", "observationalModel"=>"COHORT"}, "enrollmentInfo"=>{"type"=>"ESTIMATED", "count"=>5000}}, "statusModule"=>{"overallStatus"=>"RECRUITING", "startDateStruct"=>{"date"=>"1990-12-05", "type"=>"ACTUAL"}, "expandedAccessInfo"=>{"hasExpandedAccess"=>false}, "statusVerifiedDate"=>"2024-06-26", "lastUpdateSubmitDate"=>"2024-09-04", "studyFirstSubmitDate"=>"1999-11-03", "studyFirstSubmitQcDate"=>"1999-11-03", "lastUpdatePostDateStruct"=>{"date"=>"2024-09-05", "type"=>"ESTIMATED"}, "studyFirstPostDateStruct"=>{"date"=>"1999-11-04", "type"=>"ESTIMATED"}}, "outcomesModule"=>{"primaryOutcomes"=>[{"measure"=>"Identify and describe as yet unknown or uncharacterized inherited urologic malignant disorders.", "timeFrame"=>"on-going", "description"=>"Collection of blood, tissue \\& urine to address further scientific questions related to this protocol."}, {"measure"=>"Determine the genetic etiology of hereditary urologic malignant disorders in which the gene variation is unknown, by linkage analysis, positional cloning and evaluation of candidate genes.", "timeFrame"=>"on-going", "description"=>"Collection of blood, tissue \\& urine to address further scientific questions related to this protocol."}, {"measure"=>"Correlate specific mutations and their associated protein domains with disease phenotypic expression based on parameters including presenting age, clinical manifestations, histopathology and rate of recurrence.", "timeFrame"=>"on-going", "description"=>"Collection of blood, tissue \\& urine to address further scientific questions related to this protocol."}, {"measure"=>"Characterize the natural and clinical histories of inherited urologic malignant disorders.", "timeFrame"=>"on-going", "description"=>"Collection of blood, tissue \\& urine to address further scientific questions related to this protocol."}]}, "oversightModule"=>{"isFdaRegulatedDrug"=>false, "isFdaRegulatedDevice"=>false}, "conditionsModule"=>{"keywords"=>["Hereditary Papillary Renal Cancer (HPRC)", "Birt Hogg Dube (BHD)", "Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC)", "Pheochromocytoma", "Von Hippel-Lindau (VHL)"], "conditions"=>["Kidney Cancer", "Urologic Malignant Disorders", "Renal Cell Carcinoma", "Familial Renal Cancer (FRC)", "Clear Cell Renal Cancer"]}, "referencesModule"=>{"seeAlsoLinks"=>[{"url"=>"https://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_1989-C-0086.html", "label"=>"NIH Clinical Center Detailed Web Page"}]}, "descriptionModule"=>{"briefSummary"=>"We will investigate the clinical manifestations and molecular genetic defects of heritable urologic malignant disorders. Families with urologic malignancy with known or suspected genetic basis will be enrolled. Affected individuals or individuals suspected of having a germline urologic malignant disorder will undergo periodic clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed in situations in which the genetic basis of the disorder has not been elucidated.\n\n...", "detailedDescription"=>"Background:\n\n* Disorders under investigation are: Autosomal dominant inherited urologic malignant disorders including: von Hippel-Lindau (VHL), hereditary papillary renal cancer (HPRC), Birt Hogg Dube (BHD) and hereditary leiomyomatosis and renal cell acarcinoma (HLRCC) as well as familial renal cancer.\n* Studies have led to the identification and characterization of the VHL, HPRC, FLCN and HLRCC genes.\n* The genetic etiology of the most common type of inherited kidney cancer, familial renal cancer (FRC), remains to be determined.\n\nObjectives:\n\n* To characterize the natural and clinical histories of inherited urologic malignant disorders.\n* To determine the genetic etiology of hereditary urologic malignant disorders in which the gene variation is unknown, by linkage analysis, positional cloning and evaluation of candidate genes.\n* To correlate specific mutations and their associated protein domains with disease phenotypic expression based on parameters including presenting age, clinical manifestations, histopathology and rate of recurrence.\n* To identify and describe as yet unknown or uncharacterized inherited urologic malignant disorders.\n\nEligibility:\n\n* Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is known, including von Hippel-Lindau (VHL) and hereditary papillary renal carcinoma (HPRC).\n* Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is not yet known, specifically hereditary forms of Type II papillary renal cancer, clear cell renal carcinoma, renal oncocytoma, chromophobe renal carcinoma or Birt Hogg Dube.\n* Individuals and biologic family members who have urologic malignant diseases of suspected, but not proven genetic etiology, including families with more than one individual affected by the same or related cancers.\n\nDesign:\n\n* These rare families will be recruited to genetically confirm diagnosis, determine size and location of renal tumors, size at presentation, growth rate and metastatic potential of renal tumors.\n* Genetic testing will be offered to gain appreciation of the effect of mutations on the relative activity of various germline and somatic mutations.\n* We will determine if there is a relationship between mutation and disease manifestations and phenotype."}, "eligibilityModule"=>{"sex"=>"ALL", "stdAges"=>["CHILD", "ADULT", "OLDER_ADULT"], "minimumAge"=>"2 years", "samplingMethod"=>"NON_PROBABILITY_SAMPLE", "studyPopulation"=>"Patients with known or suspected inherited urologic malignant disorders and their biologic family members with inherited urologic malignancies will be recruited primarily from the urology, oncology, and genetics communities worldwide", "healthyVolunteers"=>true, "eligibilityCriteria"=>"* INCLUSION CRITERIA:\n\nParticipants must be greater than or equal to 2 years of age. All patients and guardians (for children younger than 18 years of age) must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed. Patients under the age of 18 but who are age 13 or older will be asked to sign an assent document prior to participation.\n\nCriteria for Acceptance into this Study (i.e., Disease Categories):\n\nDisease Category I\n\nIndividuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is known, including von Hippel-Lindau (VHL) and hereditary papillary renal carcinoma (HPRC).\n\nDisease Category II\n\nIndividuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is not yet known, specifically hereditary forms of Type II papillary renal cancer, clear cell renal carcinoma, renal oncocytoma, chromophobe renal carcinoma or Birt Hogg Dube.\n\nDisease Category III\n\nIndividuals and biologic family members who have urologic malignant diseases of suspected, but not proven genetic etiology, including families with more than one individual affected by the same or related cancers. A total of 5000 individuals will be enrolled during the study (i.e., that includes individuals registered since the beginning of the protocols in 1989 (89C0086) and 1999 (99C0101)).\n\nEnrollment per Subject Category (to include both affected and unaffected biologic relatives)\n\nSubject Category A:\n\nCategory A will include patients, and biologic relatives, who may or may not be affected who will be evaluated in the Warren G. Magnuson Clinical Center. Patients in this category will be eligible if they or their biologic family members manifest one or more of the following features in a pattern suggestive of a heritable urologic malignant disorder:\n\n* One or more histologically proven or suspected renal carcinomas and/or cysts\n* Cerebellar, spinal, medullary or cerebral hemangioblastomas\n* Retinal angioma\n* Pancreatic neuro-endocrine carcinoma, microcystadenoma and/or cysts\n* Pheochromocytoma\n* Papillary cystadenoma of the epididymis or broad ligament\n* Endolymphatic sac tumor\n* Cutaneous fibrofolliculomas or multiple skin-colored papules\n* History of spontaneous pneumothorax\n* Lung cysts\n* Thyroid carcinoma\n* Intestinal polyposis + / - colon cancer\n* Cutaneous or Uterine leiomyoma or uterine leiomyosarcoma, sarcoma\n\nSubject Category B:\n\nCategory B will include patients and the biologic relatives of patients with inherited urologic malignancies with the above listed clinical findings who live at a distance and who will not be evaluated at the Clinical Center. In some cases, local diagnostic testing may be necessary for these individuals in addition to collection of a blood sample for molecular analysis.\n\nSubject Category C:\n\nCategory C will include biologic relatives who enroll in this study primarily for genetic linkage studies. These individuals will contribute a blood sample for DNA analysis only. No imaging diagnostic testing will be performed on individuals from this category.\n\nEXCLUSION CRITERIA:\n\nNone"}, "identificationModule"=>{"nctId"=>"NCT00001238", "briefTitle"=>"Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders", "nctIdAliases"=>["NCT00019617"], "organization"=>{"class"=>"NIH", "fullName"=>"National Institutes of Health Clinical Center (CC)"}, "officialTitle"=>"Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders", "orgStudyIdInfo"=>{"id"=>"890086"}, "secondaryIdInfos"=>[{"id"=>"89-C-0086"}]}, "armsInterventionsModule"=>{"armGroups"=>[{"label"=>"Disease Category I", "description"=>"Patients, biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is known, including VHL and HPRC"}, {"label"=>"Disease Category II", "description"=>"Patients and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is not yet known"}, {"label"=>"Disease Category III", "description"=>"Patients and biologic family members with a urologic malignant disease of suspected, but not proven genetic etiology"}]}, "contactsLocationsModule"=>{"locations"=>[{"zip"=>"20892", "city"=>"Bethesda", "state"=>"Maryland", "status"=>"RECRUITING", "country"=>"United States", "contacts"=>[{"name"=>"For more information at the NIH Clinical Center contact National Cancer Institute Referral Office", "role"=>"CONTACT", "phone"=>"888-624-1937"}], "facility"=>"National Institutes of Health Clinical Center", "geoPoint"=>{"lat"=>38.98067, "lon"=>-77.10026}}], "centralContacts"=>[{"name"=>"Deborah A Nielsen, R.N.", "role"=>"CONTACT", "email"=>"deborah.nielsen@nih.gov", "phone"=>"(240) 760-6247"}, {"name"=>"W. Marston Linehan, M.D.", "role"=>"CONTACT", "email"=>"linehanm@mail.nih.gov", "phone"=>"(240) 858-3700"}], "overallOfficials"=>[{"name"=>"W. Marston Linehan, M.D.", "role"=>"PRINCIPAL_INVESTIGATOR", "affiliation"=>"National Cancer Institute (NCI)"}]}, "ipdSharingStatementModule"=>{"infoTypes"=>["STUDY_PROTOCOL", "SAP", "ICF"], "timeFrame"=>"Clinical data available during the study and indefinitely.@@@@@@Genomic data are available once genomic data are uploaded per protocol GDS plan for as long as database is active.", "ipdSharing"=>"YES", "description"=>".All IPD recorded in the medical record will be shared with intramural investigators upon request. @@@@@@In addition, all large scale genomic sequencing data will be shared with subscribers to dbGaP.", "accessCriteria"=>"Clinical data will be made available via subscription to BTRIS and with the permission of the study PI.@@@@@@Genomic data are made available via dbGaP through requests to the data custodians."}, "sponsorCollaboratorsModule"=>{"leadSponsor"=>{"name"=>"National Cancer Institute (NCI)", "class"=>"NIH"}, "responsibleParty"=>{"type"=>"SPONSOR"}}}}
