[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100279488":3},{"organization":4,"outcomesModule":7,"designInfo":133,"detailedDescription":135,"studyPopulation":136,"armGroups":137,"interventions":132,"overallOfficials":141,"centralContacts":146,"locations":150,"responsibleParty":376,"collaborators":132,"id":378,"slug":132,"hasResults":379,"nctId":380,"briefTitle":381,"officialTitle":381,"acronym":132,"eligibilityCriteria":382,"healthyVolunteers":379,"sex":383,"minAge":132,"maxAge":132,"enrollmentInfo":384,"targetDuration":132,"studyType":387,"phases":132,"briefSummary":388,"conditions":389,"keywords":391,"overallStatus":153,"whyStopped":132,"lastUpdateSubmitDate":399,"lastUpdatePostDateStruct":400,"startDateStruct":403,"completionDateStruct":405,"leadSponsor":407,"locationsCount":408},{"fullName":5,"class":6},"Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":13,"otherOutcomes":132},[9],{"measure":10,"description":11,"timeFrame":12},"Period from the diagnosis of NLSD \u002F TGCV to death from any cause","This is the period from the date of diagnosis of NLSD \u002F TGCV to the date of death from any cause. The last date of confirmation of survival will be used as the cut-off date for living patients and patients who are lost to follow-up.","5 years",[14,17,20,23,26,29,32,35,38,41,44,47,50,53,56,59,62,65,68,71,74,77,80,82,84,87,90,93,96,99,102,105,108,111,114,117,120,123,126,129],{"measure":15,"description":16,"timeFrame":12},"Serum CK(Creatine Kinase) level","Evaluating the serum CK level by measuring",{"measure":18,"description":19,"timeFrame":12},"Serum BNP(B-type Natriuretic Peptide) level","Evaluating serum BNP level by measuring",{"measure":21,"description":22,"timeFrame":12},"Serum AST(Aspartate transaminase) level","Evaluating serum AST level by measuring",{"measure":24,"description":25,"timeFrame":12},"Serum ALT(Alanine transaminase) level","Evaluating serum ALT level by measuring",{"measure":27,"description":28,"timeFrame":12},"Serum TG level","Evaluating serum TG level by measuring",{"measure":30,"description":31,"timeFrame":12},"Plasma glucose level","Evaluating plasma glucose level by measuring",{"measure":33,"description":34,"timeFrame":12},"HbA1c","Evaluating HbA1c by measuring",{"measure":36,"description":37,"timeFrame":12},"TSH(thyroid-stimulating hormone)","Evaluating TSH by measuring",{"measure":39,"description":40,"timeFrame":12},"Free T4","Evaluating Free T4 by measuring",{"measure":42,"description":43,"timeFrame":12},"Ichthyosis","Presence \u002F Absence of Ichthyosis within 5 years",{"measure":45,"description":46,"timeFrame":12},"Jordans' anomaly","Presence \u002F Absence of Jordans' anomaly within 5 years",{"measure":48,"description":49,"timeFrame":12},"Neurosensory disorders","Presence \u002F Absence of neurosensory disorders",{"measure":51,"description":52,"timeFrame":12},"Mental retardation","Presence \u002F Absence of mental retardation",{"measure":54,"description":55,"timeFrame":12},"Hearing loss","Presence \u002F Absence of hearing loss",{"measure":57,"description":58,"timeFrame":12},"Skeletal muscle (Musculoskeletal symptoms)","Presence \u002F Absence of musculoskeletal symptoms",{"measure":60,"description":61,"timeFrame":12},"Skeletal muscle (Muscle weakness)","Presence \u002F Absence of muscle weakness",{"measure":63,"description":64,"timeFrame":12},"Barthel Index","Evaluating activities of daily living by Barthel Index",{"measure":66,"description":67,"timeFrame":12},"Clinical findings of Heart","Presence \u002F Absence of cardiac symptoms",{"measure":69,"description":70,"timeFrame":12},"Clinical findings of Liver","Presence \u002F Absence of hepatomegaly",{"measure":72,"description":73,"timeFrame":12},"Clinical findings of Pancreas","Presence \u002F Absence of diabetes mellitus",{"measure":75,"description":76,"timeFrame":12},"Manual muscle test","Evaluating muscles by Manual muscle test",{"measure":78,"description":79,"timeFrame":12},"Muscle biopsy","To evaluate lipid involvement and deposition",{"measure":81,"description":79,"timeFrame":12},"Myocardial biopsy",{"measure":83,"description":79,"timeFrame":12},"Skin biopsy",{"measure":85,"description":86,"timeFrame":12},"Respiratory function test","Evaluating muscles by Respiratory function test",{"measure":88,"description":89,"timeFrame":12},"6-minute walk distance","Evaluating heart function by 6-minute ｗalk distance",{"measure":91,"description":92,"timeFrame":12},"Treadmill endurance time","Evaluating heart function by treadmill endurance time",{"measure":94,"description":95,"timeFrame":12},"Cardiopulmonary exercise test","Evaluating heart function by cardiopulmonary exercise test",{"measure":97,"description":98,"timeFrame":12},"Skeletal muscle(CT)","Evaluating skeletal muscle using CT",{"measure":100,"description":101,"timeFrame":12},"Skeletal muscle(MRI)","Evaluating skeletal muscle using MRI",{"measure":103,"description":104,"timeFrame":12},"Skeletal muscle(electromyogram)","Evaluating skeletal muscle using electromyogram",{"measure":106,"description":107,"timeFrame":12},"Fatty liver(ultrasonography)","Evaluating fatty liver by ultrasonography",{"measure":109,"description":110,"timeFrame":12},"Thyroid(ultrasonography)","Evaluating thyroid by ultrasonography",{"measure":112,"description":113,"timeFrame":12},"Echocardiogram","Measuring echocardiogram",{"measure":115,"description":116,"timeFrame":12},"Cardiac CT","Measuring cardiac CT",{"measure":118,"description":119,"timeFrame":12},"Cardiac MRI","Measuring cardiac MRI",{"measure":121,"description":122,"timeFrame":12},"Coronary angiography","Measuring coronary angiography",{"measure":124,"description":125,"timeFrame":12},"Electrocardiogram","Measuring electrocardiogram",{"measure":127,"description":128,"timeFrame":12},"Holter monitoring","Measuring holter monitoring",{"measure":130,"description":131,"timeFrame":12},"BMIPP scintigram","Evaluating myocardial lipolysis",null,{"allocation":132,"interventionModel":132,"interventionModelDescription":132,"primaryPurpose":132,"observationalModel":134,"timePerspective":6,"maskingInfo":132},"COHORT","Since NLSD is a rare disease, its clinical manifestation and clinical course have not been sufficiently clarified. Also, the number of patients in each country is limited. As such, it is considered difficult to fully investigate this disease without international collaboration. Therefore, we have established the International Registry of NLSD \u002F TGCV. Also, all patients with Jordans' anomaly of peripheral polymorphonuclear leukocytes are established as the subjects of entry when starting the registry, to allow entry of patients with NLSD due to genes other than mutations of ATGL and CGI-58 genes.\n\nTime Perspective:This study is both Prospective (registering patients who are diagnosed with NLSD \u002F TGCV) and Retrospective (registering only the medical record of previous patients).","Patients who are diagnosed with NLSD \u002FTGCV (including adults only)",[138],{"label":139,"type":132,"description":140,"interventionNames":132},"NLSD \u002F TGCV","Patients who are diagnosed with NLSD \u002F TGCV",[142],{"name":143,"affiliation":144,"role":145},"Kenichi Hirano, MD, Ph.D","Department of Cardiovascular Medicine, Faculty of Internal Medicine, Graduate School of Osaka University","PRINCIPAL_INVESTIGATOR",[147],{"name":143,"role":148,"phone":149,"phoneExt":132,"email":132},"CONTACT","+81-6-6872-8215",[151,169,182,198,214,231,247,263,273,287,301,316,330,346,362],{"facility":152,"status":153,"city":154,"state":155,"zip":156,"country":157,"countryCode":158,"cosmosGeoPoint":159,"geoPoint":164,"contacts":165},"Stanford University","RECRUITING","Stanford","California","94305-2004","United States","US",{"type":160,"coordinates":161},"Point",[162,163],-122.16608,37.42411,{"lat":163,"lon":162},[166],{"name":167,"role":148,"phone":168,"phoneExt":132,"email":132},"Sean M Wu","+1-650-723-2300",{"facility":170,"status":153,"city":171,"state":171,"zip":172,"country":157,"countryCode":158,"cosmosGeoPoint":173,"geoPoint":177,"contacts":178},"Columbia University","New York","10027",{"type":160,"coordinates":174},[175,176],-74.00597,40.71427,{"lat":176,"lon":175},[179],{"name":180,"role":148,"phone":181,"phoneExt":132,"email":132},"Salvatore DiMauro","+1-212-854-1754",{"facility":183,"status":153,"city":184,"state":185,"zip":186,"country":187,"countryCode":188,"cosmosGeoPoint":189,"geoPoint":193,"contacts":194},"University of Graz","Graz","Styria","8010","Austria","AT",{"type":160,"coordinates":190},[191,192],15.44197,47.06733,{"lat":192,"lon":191},[195],{"name":196,"role":148,"phone":197,"phoneExt":132,"email":132},"Rudolf Zechner","+43-316-380-0",{"facility":199,"status":153,"city":200,"state":201,"zip":202,"country":203,"countryCode":204,"cosmosGeoPoint":205,"geoPoint":209,"contacts":210},"Peking University First Hospital","Beijing","Beijing Municipality","100034","China","CN",{"type":160,"coordinates":206},[207,208],116.39723,39.9075,{"lat":208,"lon":207},[211],{"name":212,"role":148,"phone":213,"phoneExt":132,"email":132},"Yun Yuan","+86-66551122",{"facility":215,"status":153,"city":216,"state":216,"zip":217,"country":218,"countryCode":219,"cosmosGeoPoint":220,"geoPoint":224,"contacts":225},"Pitié-Salpêtrière Hospital","Paris","75013","France","FR",{"type":160,"coordinates":221},[222,223],2.3488,48.85341,{"lat":223,"lon":222},[226,229],{"name":227,"role":148,"phone":228,"phoneExt":132,"email":132},"Pascal Laforêt","+33-1-42-16-00-00",{"name":230,"role":148,"phone":228,"phoneExt":132,"email":132},"Karim Wahbi",{"facility":232,"status":153,"city":233,"state":234,"zip":235,"country":236,"countryCode":237,"cosmosGeoPoint":238,"geoPoint":242,"contacts":243},"Ludwig-Maximilians University","Munich","Bavaria","80539","Germany","DE",{"type":160,"coordinates":239},[240,241],11.57549,48.13743,{"lat":241,"lon":240},[244],{"name":245,"role":148,"phone":246,"phoneExt":132,"email":132},"Peter Reilich","+49-89-2180-0",{"facility":248,"status":153,"city":249,"state":250,"zip":251,"country":252,"countryCode":253,"cosmosGeoPoint":254,"geoPoint":258,"contacts":259},"Sapienza University of Rome","Rome","Lazio","00185","Italy","IT",{"type":160,"coordinates":255},[256,257],12.51133,41.89193,{"lat":257,"lon":256},[260],{"name":261,"role":148,"phone":262,"phoneExt":132,"email":132},"Marcello Arca","+39-6-49911",{"facility":264,"status":153,"city":249,"state":250,"zip":265,"country":252,"countryCode":253,"cosmosGeoPoint":266,"geoPoint":268,"contacts":269},"A.C.O. San Filippo Neri Hospital","00193",{"type":160,"coordinates":267},[256,257],{"lat":257,"lon":256},[270],{"name":271,"role":148,"phone":272,"phoneExt":132,"email":132},"Elena M Pennisi, MD, Ph.D.","+39-6-33061",{"facility":274,"status":153,"city":275,"state":276,"zip":277,"country":252,"countryCode":253,"cosmosGeoPoint":278,"geoPoint":282,"contacts":283},"Catholic University","Milan","Lombardy","20123",{"type":160,"coordinates":279},[280,281],9.18951,45.46427,{"lat":281,"lon":280},[284],{"name":285,"role":148,"phone":286,"phoneExt":132,"email":132},"Daniela Tavian, MD","+39-2-72341",{"facility":288,"status":153,"city":289,"state":290,"zip":291,"country":252,"countryCode":253,"cosmosGeoPoint":292,"geoPoint":296,"contacts":297},"University of Padova","Padova","Veneto","35122",{"type":160,"coordinates":293},[294,295],11.77208,45.26618,{"lat":295,"lon":294},[298],{"name":299,"role":148,"phone":300,"phoneExt":132,"email":132},"Corrado Angelini","+39-49-827-5111",{"facility":302,"status":153,"city":303,"state":304,"zip":305,"country":306,"countryCode":307,"cosmosGeoPoint":308,"geoPoint":312,"contacts":313},"Graduate School of Osaka University","Suita","Osaka","565-0874","Japan","JP",{"type":160,"coordinates":309},[310,311],135.51567,34.76143,{"lat":311,"lon":310},[314],{"name":315,"role":148,"phone":149,"phoneExt":132,"email":132},"Kenichi Hirano, MD, Ph.D.",{"facility":317,"status":153,"city":318,"state":319,"zip":320,"country":306,"countryCode":307,"cosmosGeoPoint":321,"geoPoint":325,"contacts":326},"National Center of Neurology and Psychiatry","Kodaira","Tokyo","187-8551",{"type":160,"coordinates":322},[323,324],139.48508,35.72603,{"lat":324,"lon":323},[327],{"name":328,"role":148,"phone":329,"phoneExt":132,"email":132},"Ichizo Nishino","+81-42-341-2711",{"facility":331,"status":153,"city":332,"state":333,"zip":334,"country":335,"countryCode":336,"cosmosGeoPoint":337,"geoPoint":341,"contacts":342},"Maastricht University","Maastricht","Limburg","6211","Netherlands","NL",{"type":160,"coordinates":338},[339,340],5.68889,50.84833,{"lat":340,"lon":339},[343],{"name":344,"role":148,"phone":345,"phoneExt":132,"email":132},"Matthijs Hesselink","+31-43-388-2222",{"facility":347,"status":153,"city":348,"state":349,"zip":350,"country":351,"countryCode":352,"cosmosGeoPoint":353,"geoPoint":357,"contacts":358},"Harefield Hospital","Harefield","London","UB9 6JH","United Kingdom","UK",{"type":160,"coordinates":354},[355,356],-0.48546,51.60333,{"lat":356,"lon":355},[359],{"name":360,"role":148,"phone":361,"phoneExt":132,"email":132},"Nick Banner","+44-1895-823-737",{"facility":363,"status":153,"city":364,"state":365,"zip":366,"country":351,"countryCode":352,"cosmosGeoPoint":367,"geoPoint":371,"contacts":372},"New Castle University","Newcastle upon Tyne","Tyne and Wear","NE1 7RU",{"type":160,"coordinates":368},[369,370],-1.61396,54.97328,{"lat":370,"lon":369},[373],{"name":374,"role":148,"phone":375,"phoneExt":132,"email":132},"Rita Horvath","+44-191-208-6000",{"type":377,"investigatorFullName":132,"investigatorTitle":132,"investigatorAffiliation":132,"oldNameTitle":132,"oldOrganization":132},"SPONSOR","100279488",false,"NCT02918032","International Registry Study of Neutral Lipid Storage Disease (NLSD) \u002F Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases","Inclusion Criteria:\n\n* Patients who are diagnosed with NLSD \u002F TGCV\n\nExclusion Criteria:\n\n* None","ALL",{"count":385,"type":386},120,"ESTIMATED","OBSERVATIONAL","This study aims to understand the state of onset of NLSD(neutral lipid storage disease) \u002F TGCV(triglyceride deposit cardiovasculopathy) worldwide, background information of affected patients, and natural history of the disease, as well as exploring the prognostic factors and assessing the efficacy of disease-specific treatment.",[390],"Neutral Lipid Storage Disease",[392,393,394,395,396,397,398],"Jordans anomaly","neutral lipid storage disease","triglyceride deposit cardiovasculopathy","ATGL gene","CGI-58 gene","primary triglyceride deposit cardiomyovasculopathy (TGCV)","neutral lipid storage disease with myopathy (NLSD-M)","2026-02-02",{"date":401,"type":402},"2026-02-05","ACTUAL",{"date":404,"type":132},"2014-01",{"date":406,"type":386},"2028-03-31",{"name":5,"class":6},15]