Study of the Disease Process of Lymphangioleiomyomatosis

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Nov 3, 1999

Nctid: NCT00001465

Payload: {"hasResults"=>false, "derivedSection"=>{"miscInfoModule"=>{"versionHolder"=>"2024-12-20"}, "conditionBrowseModule"=>{"meshes"=>[{"id"=>"D014402", "term"=>"Tuberous Sclerosis"}, {"id"=>"D018192", "term"=>"Lymphangioleiomyomatosis"}, {"id"=>"D008171", "term"=>"Lung Diseases"}, {"id"=>"D011030", "term"=>"Pneumothorax"}, {"id"=>"D012598", "term"=>"Sclerosis"}], "ancestors"=>[{"id"=>"D010335", "term"=>"Pathologic Processes"}, {"id"=>"D012140", "term"=>"Respiratory Tract Diseases"}, {"id"=>"D010995", "term"=>"Pleural Diseases"}, {"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"}, {"id"=>"D008203", "term"=>"Lymphangiomyoma"}, {"id"=>"D018190", "term"=>"Lymphatic Vessel Tumors"}, {"id"=>"D009370", "term"=>"Neoplasms by Histologic Type"}, {"id"=>"D054973", "term"=>"Perivascular Epithelioid Cell Neoplasms"}, {"id"=>"D018204", "term"=>"Neoplasms, Connective and Soft Tissue"}, {"id"=>"D008232", "term"=>"Lymphoproliferative Disorders"}, {"id"=>"D008206", "term"=>"Lymphatic Diseases"}, {"id"=>"D007160", "term"=>"Immunoproliferative Disorders"}, {"id"=>"D007154", "term"=>"Immune System Diseases"}], "browseLeaves"=>[{"id"=>"M11168", "name"=>"Lung Diseases", "asFound"=>"Lung Disease", "relevance"=>"HIGH"}, {"id"=>"M15415", "name"=>"Sclerosis", "asFound"=>"Sclerosis", "relevance"=>"HIGH"}, {"id"=>"M13920", "name"=>"Pneumothorax", "asFound"=>"Pneumothorax", "relevance"=>"HIGH"}, {"id"=>"M17152", "name"=>"Tuberous Sclerosis", "asFound"=>"Tuberous Sclerosis", "relevance"=>"HIGH"}, {"id"=>"M20338", "name"=>"Lymphangioleiomyomatosis", "asFound"=>"Lymphangioleiomyomatosis", "relevance"=>"HIGH"}, {"id"=>"M14977", "name"=>"Respiratory Tract Diseases", "relevance"=>"LOW"}, {"id"=>"M13885", "name"=>"Pleural Diseases", "relevance"=>"LOW"}, {"id"=>"M9314", "name"=>"Hamartoma", "relevance"=>"LOW"}, {"id"=>"M12323", "name"=>"Neoplasms, Multiple Primary", "relevance"=>"LOW"}, {"id"=>"M16355", "name"=>"Syndrome", "relevance"=>"LOW"}, {"id"=>"M12331", "name"=>"Neoplastic Syndromes, Hereditary", "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"=>"M11200", "name"=>"Lymphangiomyoma", "relevance"=>"LOW"}, {"id"=>"M12315", "name"=>"Neoplasms by Histologic Type", "relevance"=>"LOW"}, {"id"=>"M27983", "name"=>"Perivascular Epithelioid Cell Neoplasms", "relevance"=>"LOW"}, {"id"=>"M20350", "name"=>"Neoplasms, Connective and Soft Tissue", "relevance"=>"LOW"}, {"id"=>"M11225", "name"=>"Lymphoproliferative Disorders", "relevance"=>"LOW"}, {"id"=>"M11203", "name"=>"Lymphatic Diseases", "relevance"=>"LOW"}, {"id"=>"M10206", "name"=>"Immunoproliferative Disorders", "relevance"=>"LOW"}, {"id"=>"M10200", "name"=>"Immune System Diseases", "relevance"=>"LOW"}, {"id"=>"T5751", "name"=>"Tuberous Sclerosis Complex", "asFound"=>"Tuberous Sclerosis", "relevance"=>"HIGH"}, {"id"=>"T3526", "name"=>"Lymphangioleiomyomatosis", "asFound"=>"Lymphangioleiomyomatosis", "relevance"=>"HIGH"}], "browseBranches"=>[{"name"=>"Respiratory Tract (Lung and Bronchial) Diseases", "abbrev"=>"BC08"}, {"name"=>"All Conditions", "abbrev"=>"All"}, {"name"=>"Symptoms and General Pathology", "abbrev"=>"BC23"}, {"name"=>"Neoplasms", "abbrev"=>"BC04"}, {"name"=>"Nervous System Diseases", "abbrev"=>"BC10"}, {"name"=>"Diseases and Abnormalities at or Before Birth", "abbrev"=>"BC16"}, {"name"=>"Blood and Lymph Conditions", "abbrev"=>"BC15"}, {"name"=>"Immune System Diseases", "abbrev"=>"BC20"}, {"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"=>2000}}, "statusModule"=>{"overallStatus"=>"RECRUITING", "startDateStruct"=>{"date"=>"1995-12-18", "type"=>"ACTUAL"}, "expandedAccessInfo"=>{"hasExpandedAccess"=>false}, "statusVerifiedDate"=>"2024-06-20", "lastUpdateSubmitDate"=>"2024-12-14", "studyFirstSubmitDate"=>"1999-11-03", "studyFirstSubmitQcDate"=>"1999-11-03", "lastUpdatePostDateStruct"=>{"date"=>"2024-12-17", "type"=>"ESTIMATED"}, "studyFirstPostDateStruct"=>{"date"=>"1999-11-04", "type"=>"ESTIMATED"}}, "outcomesModule"=>{"primaryOutcomes"=>[{"measure"=>"Define the clinical course of the disease LAM andelucidate the pathogenesis of LAM at cellular and molecular levels", "timeFrame"=>"on going", "description"=>"To define the molecular basis of the remarkable proliferation of immature appearing smooth muscle cells, which is the cause of many of the clinical manifestations, and perhaps thereby to improve our understanding of the mechanism of smooth muscle cell proliferation in other diseases, e.g., interstitial lung diseases, asthma, atherosclerosis, hypertension, and post-angioplastic coronary restenosis. To assess the contribution of proteins and genetic factors to cyst formation, airway obstruction, and clinical course. To evaluate the role of TSC genes in the pathogenesis of LAM."}]}, "oversightModule"=>{"isFdaRegulatedDrug"=>false, "isFdaRegulatedDevice"=>false}, "conditionsModule"=>{"keywords"=>["Smooth Muscle Proliferation", "Bronchoscopy", "Female", "Pneumothorax", "Tuberous Sclerosis", "Natural History"], "conditions"=>["Lung Disease", "Pneumothorax", "Tuberous Sclerosis", "Lymphangioleiomyomatosis"]}, "referencesModule"=>{"references"=>[{"pmid"=>"33549601", "type"=>"DERIVED", "citation"=>"Matthew BP, Hasani AM, Chen YC, Pirooznia M, Stylianou M, Rollison SF, Machado TR, Quade NM, Jones AM, Julien-Williams P, Taveira-DaSilva A, Chen MY, Moss J, Wen H. Ultra-Small Lung Cysts Impair Diffusion Without Obstructing Air Flow in Lymphangioleiomyomatosis. Chest. 2021 Jul;160(1):199-208. doi: 10.1016/j.chest.2021.01.077. Epub 2021 Feb 5."}, {"pmid"=>"30291925", "type"=>"DERIVED", "citation"=>"Hu-Wang E, Schuzer JL, Rollison S, Leifer ES, Steveson C, Gopalakrishnan V, Yao J, Machado T, Jones AM, Julien-Williams P, Moss J, Chen MY. Chest CT Scan at Radiation Dose of a Posteroanterior and Lateral Chest Radiograph Series: A Proof of Principle in Lymphangioleiomyomatosis. Chest. 2019 Mar;155(3):528-533. doi: 10.1016/j.chest.2018.09.007. Epub 2018 Oct 3."}], "seeAlsoLinks"=>[{"url"=>"https://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_1995-H-0186.html", "label"=>"NIH Clinical Center Detailed Web Page"}]}, "descriptionModule"=>{"briefSummary"=>"Pulmonary lymphangioleiomyomatosis (LAM) is a destructive lung disease typically affecting women of childbearing age. Currently, there is no effective therapy for the disease and the prognosis is poor.\n\nThis study is designed to determine the disease processes involved at the level of cells and molecules, in order to develop more effective therapy.\n\nResearchers intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals.", "detailedDescription"=>"Individuals with pulmonary lymphangioleiomyomatosis develop severe destructive lung disease. Most of them are females of childbearing age. Currently, there is no proven effective therapy and the prognosis is variable. This study is designed to (a) define the clinical course of the disease and (b) elucidate the pathogenesis of the disease at the cellular and molecular levels, in order to develop more effective therapy. To accomplish this, we intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals."}, "eligibilityModule"=>{"sex"=>"ALL", "stdAges"=>["CHILD", "ADULT", "OLDER_ADULT"], "maximumAge"=>"100 years", "minimumAge"=>"16 years", "samplingMethod"=>"NON_PROBABILITY_SAMPLE", "studyPopulation"=>"Individuals with pulmonary lymphangioleiomyomatosis develop severe destructive lung disease. Most of them are females of childbearing age. This study is designed to (a) define the clinical course of the disease and (b) elucidate the pathogenesis of the disease at the cellular and molecular levels, in order to develop more effective therapy. To accomplish this, we intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals.", "healthyVolunteers"=>false, "eligibilityCriteria"=>"* INCLUSION CRITERIA:\n\nGeneral admission criteria for patients include one or both of the following:\n\nFindings on lung biopsy diagnostic of LAM;\n\nFindings on chest x-ray and/or chest computed axial tomography consistent with LAM.\n\nPatients with TSC and pulmonary LAM will be included in the study.\n\nNormal non-smokers in the control group are defined as individuals who have not smoked for greater than or equal to 1 year and have no systemic or pulmonary disease.\n\nNormal smokers defined as individuals with no systemic or pulmonary disease, who have smoked for greater than or equal to 1 year and have normal chest x-ray and normal pulmonary function tests may be included if needed as controls for a similar population of patients with LAM.\n\nPregnant and or nursing women can be included in accordance with Federal Regulations at Subpart B of 45 CFR 46 Subjects who are pregnant and or nursing will be excluded from procedures during their pregnancy that are greater than minimal risk, until they are no longer pregnant and/or nursing. Procedures that will not be completed while the subject is pregnant and/or nursing including: PFTs, Six Minute Walk Test, thoracentesis, bronchoscopy, and measurements with imaging modalities requiring contrast or with radiation exposure such as Chest x-ray, CT scan, MRI, bone densitometry (DEXA). Allowing subjects to be included in the study may glean important information about individuals with uncommon pulmonary disease during and post pregnancy.\n\nEXCLUSION CRITERIA:\n\nExclusion criteria for patients include:\n\nAge less than 16.\n\nAdvanced stage of a pulmonary or a systemic illness in which the risk of the study is judged to be significant even in the absence of a clear contraindication to the procedures.\n\nExclusion criteria for patients for the formal exercise study and the stress echocardiogram include patients on continuous oxygen. Patients may perform an exercise test that will assess the patient's exercise capacity with activities of daily living."}, "identificationModule"=>{"nctId"=>"NCT00001465", "briefTitle"=>"Study of the Disease Process of Lymphangioleiomyomatosis", "organization"=>{"class"=>"NIH", "fullName"=>"National Institutes of Health Clinical Center (CC)"}, "officialTitle"=>"Characterization of the Pathogenesis of Lymphangioleiomyomatosis (LAM)", "orgStudyIdInfo"=>{"id"=>"950186"}, "secondaryIdInfos"=>[{"id"=>"95-H-0186"}]}, "armsInterventionsModule"=>{"armGroups"=>[{"label"=>"LAM", "description"=>"Patients with tissue diagnosis of LAM may be admitted for evaluation every six months, or as deemed necessary for research", "interventionNames"=>["Device: Toshibia Aquilion One CT"]}], "interventions"=>[{"name"=>"Toshibia Aquilion One CT", "type"=>"DEVICE", "description"=>"The Toshiba Aquilion ONE CT system is currently being used for studies in both general CT radiology and CT cardiac imaging. One of the unique aspects of the Aquilion ONE CT system is its ability to acquire whole organ volume images in a single rotation by utilizing an x-ray detector that is configured as 320 detector rows with a 0.5 mm width, providing a z-axis coverage of 16 cm of anatomy. In line with the evolutionary changes to CT systems, the Aquilion ONE will be upgraded with new technology that will expand its capabilities. The changes being made to the Aquilion ONE will provide enhancements to image acquisition capabilities, reduce ionizing radiation dose, and improve subject access to the system. All of these features assist in enhancing the safety of the currently installed Aquilion ONE CT system.", "armGroupLabels"=>["LAM"]}]}, "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"}, "sponsorCollaboratorsModule"=>{"leadSponsor"=>{"name"=>"National Heart, Lung, and Blood Institute (NHLBI)", "class"=>"NIH"}, "responsibleParty"=>{"type"=>"SPONSOR"}}}}