Neutral Lipid Storage Disease
Conditions
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)
Brief summary
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.
Detailed description
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).
Interventions
None listed
Sponsors
Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Patients who are diagnosed with NLSD / TGCV
Exclusion criteria
* None
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Period from the diagnosis of NLSD / TGCV to death from any cause | 5 years | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Serum CK(Creatine Kinase) level | 5 years | Evaluating the serum CK level by measuring |
| Serum BNP(B-type Natriuretic Peptide) level | 5 years | Evaluating serum BNP level by measuring |
| Serum AST(Aspartate transaminase) level | 5 years | Evaluating serum AST level by measuring |
| Serum ALT(Alanine transaminase) level | 5 years | Evaluating serum ALT level by measuring |
| Serum TG level | 5 years | Evaluating serum TG level by measuring |
| Plasma glucose level | 5 years | Evaluating plasma glucose level by measuring |
| HbA1c | 5 years | Evaluating HbA1c by measuring |
| TSH(thyroid-stimulating hormone) | 5 years | Evaluating TSH by measuring |
| Free T4 | 5 years | Evaluating Free T4 by measuring |
| Ichthyosis | 5 years | Presence / Absence of Ichthyosis within 5 years |
| Jordans' anomaly | 5 years | Presence / Absence of Jordans' anomaly within 5 years |
| Neurosensory disorders | 5 years | Presence / Absence of neurosensory disorders |
| Mental retardation | 5 years | Presence / Absence of mental retardation |
| Hearing loss | 5 years | Presence / Absence of hearing loss |
| Skeletal muscle (Musculoskeletal symptoms) | 5 years | Presence / Absence of musculoskeletal symptoms |
| Skeletal muscle (Muscle weakness) | 5 years | Presence / Absence of muscle weakness |
| Barthel Index | 5 years | Evaluating activities of daily living by Barthel Index |
| Clinical findings of Heart | 5 years | Presence / Absence of cardiac symptoms |
| Clinical findings of Liver | 5 years | Presence / Absence of hepatomegaly |
| Clinical findings of Pancreas | 5 years | Presence / Absence of diabetes mellitus |
| Manual muscle test | 5 years | Evaluating muscles by Manual muscle test |
| Muscle biopsy | 5 years | To evaluate lipid involvement and deposition |
| Myocardial biopsy | 5 years | To evaluate lipid involvement and deposition |
| Skin biopsy | 5 years | To evaluate lipid involvement and deposition |
| Respiratory function test | 5 years | Evaluating muscles by Respiratory function test |
| 6-minute walk distance | 5 years | Evaluating heart function by 6-minute ｗalk distance |
| Treadmill endurance time | 5 years | Evaluating heart function by treadmill endurance time |
| Cardiopulmonary exercise test | 5 years | Evaluating heart function by cardiopulmonary exercise test |
| Skeletal muscle(CT) | 5 years | Evaluating skeletal muscle using CT |
| Skeletal muscle(MRI) | 5 years | Evaluating skeletal muscle using MRI |
| Skeletal muscle(electromyogram) | 5 years | Evaluating skeletal muscle using electromyogram |
| Fatty liver(ultrasonography) | 5 years | Evaluating fatty liver by ultrasonography |
| Thyroid(ultrasonography) | 5 years | Evaluating thyroid by ultrasonography |
| Echocardiogram | 5 years | Measuring echocardiogram |
| Cardiac CT | 5 years | Measuring cardiac CT |
| Cardiac MRI | 5 years | Measuring cardiac MRI |
| Coronary angiography | 5 years | Measuring coronary angiography |
| Electrocardiogram | 5 years | Measuring electrocardiogram |
| Holter monitoring | 5 years | Measuring holter monitoring |
| BMIPP scintigram | 5 years | Evaluating myocardial lipolysis |
Countries
Austria, China, France, Germany, Italy, Japan, Netherlands, United Kingdom, United States
Contacts
CONTACTKenichi Hirano, MD, Ph.D
PRINCIPAL_INVESTIGATORKenichi Hirano, MD, Ph.D
Department of Cardiovascular Medicine, Faculty of Internal Medicine, Graduate School of Osaka University
Outcome results
None listed