Ignite Creation Date:
2025-12-24 @ 9:39 PM
Ignite Modification Date:
2026-02-22 @ 11:35 AM
Study NCT ID:
NCT02918032
Status:
UNKNOWN
Last Update Posted:
2023-11-09
First Post:
2016-08-04
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C536560', 'term': 'Chanarin-Dorfman Syndrome'}, {'id': 'C565192', 'term': 'Neutral Lipid Storage Disease with Myopathy'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 120}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2014-01'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-11', 'completionDateStruct': {'date': '2025-03', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2023-11-06', 'studyFirstSubmitDate': '2016-08-04', 'studyFirstSubmitQcDate': '2016-09-26', 'lastUpdatePostDateStruct': {'date': '2023-11-09', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2016-09-28', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2025-03', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Period from the diagnosis of NLSD / TGCV to death from any cause', 'timeFrame': '5 years', 'description': 'This is the period from the date of diagnosis of NLSD / 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.'}], 'secondaryOutcomes': [{'measure': 'Serum CK(Creatine Kinase) level', 'timeFrame': '5 years', 'description': 'Evaluating the serum CK level by measuring'}, {'measure': 'Serum BNP(B-type Natriuretic Peptide) level', 'timeFrame': '5 years', 'description': 'Evaluating serum BNP level by measuring'}, {'measure': 'Serum AST(Aspartate transaminase) level', 'timeFrame': '5 years', 'description': 'Evaluating serum AST level by measuring'}, {'measure': 'Serum ALT(Alanine transaminase) level', 'timeFrame': '5 years', 'description': 'Evaluating serum ALT level by measuring'}, {'measure': 'Serum TG level', 'timeFrame': '5 years', 'description': 'Evaluating serum TG level by measuring'}, {'measure': 'Plasma glucose level', 'timeFrame': '5 years', 'description': 'Evaluating plasma glucose level by measuring'}, {'measure': 'HbA1c', 'timeFrame': '5 years', 'description': 'Evaluating HbA1c by measuring'}, {'measure': 'TSH(thyroid-stimulating hormone)', 'timeFrame': '5 years', 'description': 'Evaluating TSH by measuring'}, {'measure': 'Free T4', 'timeFrame': '5 years', 'description': 'Evaluating Free T4 by measuring'}, {'measure': 'Ichthyosis', 'timeFrame': '5 years', 'description': 'Presence / Absence of Ichthyosis within 5 years'}, {'measure': "Jordans' anomaly", 'timeFrame': '5 years', 'description': "Presence / Absence of Jordans' anomaly within 5 years"}, {'measure': 'Neurosensory disorders', 'timeFrame': '5 years', 'description': 'Presence / Absence of neurosensory disorders'}, {'measure': 'Mental retardation', 'timeFrame': '5 years', 'description': 'Presence / Absence of mental retardation'}, {'measure': 'Hearing loss', 'timeFrame': '5 years', 'description': 'Presence / Absence of hearing loss'}, {'measure': 'Skeletal muscle (Musculoskeletal symptoms)', 'timeFrame': '5 years', 'description': 'Presence / Absence of musculoskeletal symptoms'}, {'measure': 'Skeletal muscle (Muscle weakness)', 'timeFrame': '5 years', 'description': 'Presence / Absence of muscle weakness'}, {'measure': 'Barthel Index', 'timeFrame': '5 years', 'description': 'Evaluating activities of daily living by Barthel Index'}, {'measure': 'Clinical findings of Heart', 'timeFrame': '5 years', 'description': 'Presence / Absence of cardiac symptoms'}, {'measure': 'Clinical findings of Liver', 'timeFrame': '5 years', 'description': 'Presence / Absence of hepatomegaly'}, {'measure': 'Clinical findings of Pancreas', 'timeFrame': '5 years', 'description': 'Presence / Absence of diabetes mellitus'}, {'measure': 'Manual muscle test', 'timeFrame': '5 years', 'description': 'Evaluating muscles by Manual muscle test'}, {'measure': 'Muscle biopsy', 'timeFrame': '5 years', 'description': 'To evaluate lipid involvement and deposition'}, {'measure': 'Myocardial biopsy', 'timeFrame': '5 years', 'description': 'To evaluate lipid involvement and deposition'}, {'measure': 'Skin biopsy', 'timeFrame': '5 years', 'description': 'To evaluate lipid involvement and deposition'}, {'measure': 'Respiratory function test', 'timeFrame': '5 years', 'description': 'Evaluating muscles by Respiratory function test'}, {'measure': '6-minute walk distance', 'timeFrame': '5 years', 'description': 'Evaluating heart function by 6-minute ｗalk distance'}, {'measure': 'Treadmill endurance time', 'timeFrame': '5 years', 'description': 'Evaluating heart function by treadmill endurance time'}, {'measure': 'Cardiopulmonary exercise test', 'timeFrame': '5 years', 'description': 'Evaluating heart function by cardiopulmonary exercise test'}, {'measure': 'Skeletal muscle(CT)', 'timeFrame': '5 years', 'description': 'Evaluating skeletal muscle using CT'}, {'measure': 'Skeletal muscle(MRI)', 'timeFrame': '5 years', 'description': 'Evaluating skeletal muscle using MRI'}, {'measure': 'Skeletal muscle(electromyogram)', 'timeFrame': '5 years', 'description': 'Evaluating skeletal muscle using electromyogram'}, {'measure': 'Fatty liver(ultrasonography)', 'timeFrame': '5 years', 'description': 'Evaluating fatty liver by ultrasonography'}, {'measure': 'Thyroid(ultrasonography)', 'timeFrame': '5 years', 'description': 'Evaluating thyroid by ultrasonography'}, {'measure': 'Echocardiogram', 'timeFrame': '5 years', 'description': 'Measuring echocardiogram'}, {'measure': 'Cardiac CT', 'timeFrame': '5 years', 'description': 'Measuring cardiac CT'}, {'measure': 'Cardiac MRI', 'timeFrame': '5 years', 'description': 'Measuring cardiac MRI'}, {'measure': 'Coronary angiography', 'timeFrame': '5 years', 'description': 'Measuring coronary angiography'}, {'measure': 'Electrocardiogram', 'timeFrame': '5 years', 'description': 'Measuring electrocardiogram'}, {'measure': 'Holter monitoring', 'timeFrame': '5 years', 'description': 'Measuring holter monitoring'}, {'measure': 'BMIPP scintigram', 'timeFrame': '5 years', 'description': 'Evaluating myocardial lipolysis'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['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)'], 'conditions': ['Neutral Lipid Storage Disease']}, 'descriptionModule': {'briefSummary': 'This study aims to understand the state of onset of NLSD(neutral lipid storage disease) / 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.', 'detailedDescription': "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 / 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 / TGCV) and Retrospective (registering only the medical record of previous patients)."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients who are diagnosed with NLSD /TGCV (including adults only)', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patients who are diagnosed with NLSD / TGCV\n\nExclusion Criteria:\n\n* None'}, 'identificationModule': {'nctId': 'NCT02918032', 'briefTitle': 'International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases', 'organization': {'class': 'OTHER', 'fullName': 'Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan'}, 'officialTitle': 'International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases', 'orgStudyIdInfo': {'id': 'TRICVD1315'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'NLSD / TGCV', 'description': 'Patients who are diagnosed with NLSD / TGCV'}]}, 'contactsLocationsModule': {'locations': [{'zip': '94305-2004', 'city': 'Stanford', 'state': 'California', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Sean M Wu', 'role': 'CONTACT', 'phone': '650-723-2300'}], 'facility': 'Stanford University', 'geoPoint': {'lat': 37.42411, 'lon': -122.16608}}, {'zip': '10027', 'city': 'New York', 'state': 'New York', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Salvatore DiMauro', 'role': 'CONTACT', 'phone': '212-854-1754'}], 'facility': 'Columbia University', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}, {'zip': '8010', 'city': 'Graz', 'state': 'Styria', 'status': 'RECRUITING', 'country': 'Austria', 'contacts': [{'name': 'Rudolf Zechner', 'role': 'CONTACT', 'phone': '+43-316-380-0'}], 'facility': 'University of Graz', 'geoPoint': {'lat': 47.06733, 'lon': 15.44197}}, {'zip': '100034', 'city': 'Beijing', 'state': 'Beijing Municipality', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Yun Yuan', 'role': 'CONTACT', 'phone': '+86-66551122'}], 'facility': 'Peking University First Hospital', 'geoPoint': {'lat': 39.9075, 'lon': 116.39723}}, {'zip': '75013', 'city': 'Paris', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Pascal Laforêt', 'role': 'CONTACT', 'phone': '+33-1-42-16-00-00'}, {'name': 'Karim Wahbi', 'role': 'CONTACT', 'phone': '+33-1-42-16-00-00'}], 'facility': 'Pitié-Salpêtrière Hospital', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '80539', 'city': 'Munich', 'state': 'Bavaria', 'status': 'RECRUITING', 'country': 'Germany', 'contacts': [{'name': 'Peter Reilich', 'role': 'CONTACT', 'phone': '+49-89-2180-0'}], 'facility': 'Ludwig-Maximilians University', 'geoPoint': {'lat': 48.13743, 'lon': 11.57549}}, {'zip': '00185', 'city': 'Rome', 'state': 'Lazio', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Marcello Arca', 'role': 'CONTACT', 'phone': '+39-6-49911'}], 'facility': 'Sapienza University of Rome', 'geoPoint': {'lat': 41.89193, 'lon': 12.51133}}, {'zip': '00193', 'city': 'Rome', 'state': 'Lazio', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Elena M Pennisi, MD, Ph.D.', 'role': 'CONTACT', 'phone': '+39-6-33061'}], 'facility': 'A.C.O. San Filippo Neri Hospital', 'geoPoint': {'lat': 41.89193, 'lon': 12.51133}}, {'zip': '20123', 'city': 'Milan', 'state': 'Lombardy', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Daniela Tavian, MD', 'role': 'CONTACT', 'phone': '+39-2-72341'}], 'facility': 'Catholic University', 'geoPoint': {'lat': 45.46427, 'lon': 9.18951}}, {'zip': '35122', 'city': 'Padua', 'state': 'Veneto', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Corrado Angelini', 'role': 'CONTACT', 'phone': '+39-49-827-5111'}], 'facility': 'University of Padova', 'geoPoint': {'lat': 45.40797, 'lon': 11.88586}}, {'zip': '565-0874', 'city': 'Suita', 'state': 'Osaka', 'status': 'RECRUITING', 'country': 'Japan', 'contacts': [{'name': 'Kenichi Hirano, MD, Ph.D.', 'role': 'CONTACT', 'phone': '+81-6-6872-8215'}], 'facility': 'Graduate School of Osaka University', 'geoPoint': {'lat': 34.76143, 'lon': 135.51567}}, {'zip': '187-8551', 'city': 'Kodaira', 'state': 'Tokyo', 'status': 'RECRUITING', 'country': 'Japan', 'contacts': [{'name': 'Ichizo Nishino', 'role': 'CONTACT', 'phone': '+81-42-341-2711'}], 'facility': 'National Center of Neurology and Psychiatry', 'geoPoint': {'lat': 35.72603, 'lon': 139.48508}}, {'zip': '6211', 'city': 'Maastricht', 'state': 'Limburg', 'status': 'RECRUITING', 'country': 'Netherlands', 'contacts': [{'name': 'Matthijs Hesselink', 'role': 'CONTACT', 'phone': '+31-43-388-2222'}], 'facility': 'Maastricht University', 'geoPoint': {'lat': 50.84833, 'lon': 5.68889}}, {'zip': 'UB9 6JH', 'city': 'Harefield', 'state': 'London', 'status': 'RECRUITING', 'country': 'United Kingdom', 'contacts': [{'name': 'Nick Banner', 'role': 'CONTACT', 'phone': '+44-1895-823-737'}], 'facility': 'Harefield Hospital', 'geoPoint': {'lat': 51.60333, 'lon': -0.48546}}, {'zip': 'NE1 7RU', 'city': 'Newcastle upon Tyne', 'state': 'Tyne and Wear', 'status': 'RECRUITING', 'country': 'United Kingdom', 'contacts': [{'name': 'Rita Horvath', 'role': 'CONTACT', 'phone': '+44-191-208-6000'}], 'facility': 'New Castle University', 'geoPoint': {'lat': 54.97328, 'lon': -1.61396}}], 'centralContacts': [{'name': 'Kenichi Hirano, MD, Ph.D', 'role': 'CONTACT', 'phone': '+81-6-6872-8215'}], 'overallOfficials': [{'name': 'Kenichi Hirano, MD, Ph.D', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Department of Cardiovascular Medicine, Faculty of Internal Medicine, Graduate School of Osaka University'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}