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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.
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.
Time Perspective:This study is both Prospective (registering patients who are diagnosed with NLSD / TGCV) and Retrospective (registering only the medical record of previous patients).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| NLSD / TGCV | Patients who are diagnosed with NLSD / TGCV |
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| Measure | Description | Time Frame |
|---|---|---|
| Period from the diagnosis of NLSD / TGCV to death from any cause | 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. | 5 years |
| Measure | Description | Time Frame |
|---|---|---|
| Serum CK(Creatine Kinase) level | Evaluating the serum CK level by measuring | 5 years |
| Serum BNP(B-type Natriuretic Peptide) level | Evaluating serum BNP level by measuring |
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Inclusion Criteria:
Exclusion Criteria:
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Patients who are diagnosed with NLSD /TGCV (including adults only)
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Kenichi Hirano, MD, Ph.D | Contact | +81-6-6872-8215 |
| Name | Affiliation | Role |
|---|---|---|
| Kenichi Hirano, MD, Ph.D | Department of Cardiovascular Medicine, Faculty of Internal Medicine, Graduate School of Osaka University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Stanford University | Recruiting | Stanford | California | 94305-2004 | United States |
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| 5 years |
| Serum AST(Aspartate transaminase) level | Evaluating serum AST level by measuring | 5 years |
| Serum ALT(Alanine transaminase) level | Evaluating serum ALT level by measuring | 5 years |
| Serum TG level | Evaluating serum TG level by measuring | 5 years |
| Plasma glucose level | Evaluating plasma glucose level by measuring | 5 years |
| HbA1c | Evaluating HbA1c by measuring | 5 years |
| TSH(thyroid-stimulating hormone) | Evaluating TSH by measuring | 5 years |
| Free T4 | Evaluating Free T4 by measuring | 5 years |
| Ichthyosis | Presence / Absence of Ichthyosis within 5 years | 5 years |
| Jordans' anomaly | Presence / Absence of Jordans' anomaly within 5 years | 5 years |
| Neurosensory disorders | Presence / Absence of neurosensory disorders | 5 years |
| Mental retardation | Presence / Absence of mental retardation | 5 years |
| Hearing loss | Presence / Absence of hearing loss | 5 years |
| Skeletal muscle (Musculoskeletal symptoms) | Presence / Absence of musculoskeletal symptoms | 5 years |
| Skeletal muscle (Muscle weakness) | Presence / Absence of muscle weakness | 5 years |
| Barthel Index | Evaluating activities of daily living by Barthel Index | 5 years |
| Clinical findings of Heart | Presence / Absence of cardiac symptoms | 5 years |
| Clinical findings of Liver | Presence / Absence of hepatomegaly | 5 years |
| Clinical findings of Pancreas | Presence / Absence of diabetes mellitus | 5 years |
| Manual muscle test | Evaluating muscles by Manual muscle test | 5 years |
| Muscle biopsy | To evaluate lipid involvement and deposition | 5 years |
| Myocardial biopsy | To evaluate lipid involvement and deposition | 5 years |
| Skin biopsy | To evaluate lipid involvement and deposition | 5 years |
| Respiratory function test | Evaluating muscles by Respiratory function test | 5 years |
| 6-minute walk distance | Evaluating heart function by 6-minute ｗalk distance | 5 years |
| Treadmill endurance time | Evaluating heart function by treadmill endurance time | 5 years |
| Cardiopulmonary exercise test | Evaluating heart function by cardiopulmonary exercise test | 5 years |
| Skeletal muscle(CT) | Evaluating skeletal muscle using CT | 5 years |
| Skeletal muscle(MRI) | Evaluating skeletal muscle using MRI | 5 years |
| Skeletal muscle(electromyogram) | Evaluating skeletal muscle using electromyogram | 5 years |
| Fatty liver(ultrasonography) | Evaluating fatty liver by ultrasonography | 5 years |
| Thyroid(ultrasonography) | Evaluating thyroid by ultrasonography | 5 years |
| Echocardiogram | Measuring echocardiogram | 5 years |
| Cardiac CT | Measuring cardiac CT | 5 years |
| Cardiac MRI | Measuring cardiac MRI | 5 years |
| Coronary angiography | Measuring coronary angiography | 5 years |
| Electrocardiogram | Measuring electrocardiogram | 5 years |
| Holter monitoring | Measuring holter monitoring | 5 years |
| BMIPP scintigram | Evaluating myocardial lipolysis | 5 years |
| Columbia University | Recruiting | New York | New York | 10027 | United States |
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| University of Graz | Recruiting | Graz | Styria | 8010 | Austria |
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| Peking University First Hospital | Recruiting | Beijing | Beijing Municipality | 100034 | China |
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| Pitié-Salpêtrière Hospital | Recruiting | Paris | Paris | 75013 | France |
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| Ludwig-Maximilians University | Recruiting | Munich | Bavaria | 80539 | Germany |
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| Sapienza University of Rome | Recruiting | Rome | Lazio | 00185 | Italy |
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| A.C.O. San Filippo Neri Hospital | Recruiting | Rome | Lazio | 00193 | Italy |
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| Catholic University | Recruiting | Milan | Lombardy | 20123 | Italy |
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| University of Padova | Recruiting | Padova | Veneto | 35122 | Italy |
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| Graduate School of Osaka University | Recruiting | Suita | Osaka | 565-0874 | Japan |
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| National Center of Neurology and Psychiatry | Recruiting | Kodaira | Tokyo | 187-8551 | Japan |
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| Maastricht University | Recruiting | Maastricht | Limburg | 6211 | Netherlands |
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| Harefield Hospital | Recruiting | Harefield | London | UB9 6JH | United Kingdom |
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| New Castle University | Recruiting | Newcastle upon Tyne | Tyne and Wear | NE1 7RU | United Kingdom |
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| ID | Term |
|---|---|
| C536560 | Chanarin-Dorfman Syndrome |
| C565192 | Neutral Lipid Storage Disease with Myopathy |
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