International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
- Conditions
- Neutral Lipid Storage Disease
- Registration Number
- NCT02918032
- Lead Sponsor
- Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
- 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).
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 120
- Patients who are diagnosed with NLSD / TGCV
- None
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 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 Outcome Measures
Name Time Method Respiratory function test 5 years Evaluating muscles by Respiratory function test
Serum TG level 5 years Evaluating serum TG level by measuring
Clinical findings of Heart 5 years Presence / Absence of cardiac symptoms
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
HbA1c 5 years Evaluating HbA1c by measuring
Barthel Index 5 years Evaluating activities of daily living by Barthel Index
Skin biopsy 5 years To evaluate lipid involvement and deposition
TSH(thyroid-stimulating hormone) 5 years Evaluating TSH by measuring
Free T4 5 years Evaluating Free T4 by measuring
Skeletal muscle (Musculoskeletal symptoms) 5 years Presence / Absence of musculoskeletal symptoms
Skeletal muscle(CT) 5 years Evaluating skeletal muscle using CT
Cardiac MRI 5 years Measuring cardiac MRI
Holter monitoring 5 years Measuring holter monitoring
Plasma glucose level 5 years Evaluating plasma glucose level by measuring
Jordans' anomaly 5 years Presence / Absence of Jordans' anomaly within 5 years
Hearing loss 5 years Presence / Absence of hearing loss
Skeletal muscle (Muscle weakness) 5 years Presence / Absence of muscle weakness
Clinical findings of Liver 5 years Presence / Absence of hepatomegaly
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
Skeletal muscle(MRI) 5 years Evaluating skeletal muscle using MRI
Skeletal muscle(electromyogram) 5 years Evaluating skeletal muscle using electromyogram
Thyroid(ultrasonography) 5 years Evaluating thyroid by ultrasonography
Coronary angiography 5 years Measuring coronary angiography
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
Ichthyosis 5 years Presence / Absence of Ichthyosis within 5 years
Neurosensory disorders 5 years Presence / Absence of neurosensory disorders
Mental retardation 5 years Presence / Absence of mental retardation
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
Cardiopulmonary exercise test 5 years Evaluating heart function by cardiopulmonary exercise test
Echocardiogram 5 years Measuring echocardiogram
Cardiac CT 5 years Measuring cardiac CT
Electrocardiogram 5 years Measuring electrocardiogram
BMIPP scintigram 5 years Evaluating myocardial lipolysis
Fatty liver(ultrasonography) 5 years Evaluating fatty liver by ultrasonography
Trial Locations
- Locations (15)
Graduate School of Osaka University
🇯🇵Suita-city, Osaka-prefecture, Japan
Harefield Hospital
🇬🇧Harefield, London, United Kingdom
New Castle University
🇬🇧Newcastle upon Tyne, Tyne And Wear, United Kingdom
University of Padova
🇮🇹Padova, Veneto, Italy
Sapienza University of Rome
🇮🇹Rome, Lazio, Italy
Stanford University
🇺🇸Stanford, California, United States
Columbia University
🇺🇸New York, New York, United States
Ludwig-Maximilians University
🇩🇪Munich, Bayern, Germany
Catholic University
🇮🇹Milano, Lombardia, Italy
University of Graz
🇦🇹Graz, Steiermark, Austria
A.C.O. San Filippo Neri Hospital
🇮🇹Rome, Lazio, Italy
Maastricht University
🇳🇱Maastricht, Limburg, Netherlands
National Center of Neurology and Psychiatry
🇯🇵Kodaira-city, Tokyo, Japan
Pitié-Salpêtrière Hospital
🇫🇷Paris, France
Peking University First Hospital
🇨🇳Beijing, Beijing, China