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).
Study Type
OBSERVATIONAL
Enrollment
120
Stanford University
Stanford, California, United States
RECRUITINGColumbia University
New York, New York, United States
RECRUITINGUniversity of Graz
Graz, Styria, Austria
RECRUITINGPeking University First Hospital
Beijing, Beijing Municipality, China
RECRUITINGPitié-Salpêtrière Hospital
Paris, Paris, France
RECRUITINGLudwig-Maximilians University
Munich, Bavaria, Germany
RECRUITINGSapienza University of Rome
Rome, Lazio, Italy
RECRUITINGA.C.O. San Filippo Neri Hospital
Rome, Lazio, Italy
RECRUITINGCatholic University
Milan, Lombardy, Italy
RECRUITINGUniversity of Padova
Padua, Veneto, Italy
RECRUITING...and 5 more locations
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.
Time frame: 5 years
Serum CK(Creatine Kinase) level
Evaluating the serum CK level by measuring
Time frame: 5 years
Serum BNP(B-type Natriuretic Peptide) level
Evaluating serum BNP level by measuring
Time frame: 5 years
Serum AST(Aspartate transaminase) level
Evaluating serum AST level by measuring
Time frame: 5 years
Serum ALT(Alanine transaminase) level
Evaluating serum ALT level by measuring
Time frame: 5 years
Serum TG level
Evaluating serum TG level by measuring
Time frame: 5 years
Plasma glucose level
Evaluating plasma glucose level by measuring
Time frame: 5 years
HbA1c
Evaluating HbA1c by measuring
Time frame: 5 years
TSH(thyroid-stimulating hormone)
Evaluating TSH by measuring
Time frame: 5 years
Free T4
Evaluating Free T4 by measuring
Time frame: 5 years
Ichthyosis
Presence / Absence of Ichthyosis within 5 years
Time frame: 5 years
Jordans' anomaly
Presence / Absence of Jordans' anomaly within 5 years
Time frame: 5 years
Neurosensory disorders
Presence / Absence of neurosensory disorders
Time frame: 5 years
Mental retardation
Presence / Absence of mental retardation
Time frame: 5 years
Hearing loss
Presence / Absence of hearing loss
Time frame: 5 years
Skeletal muscle (Musculoskeletal symptoms)
Presence / Absence of musculoskeletal symptoms
Time frame: 5 years
Skeletal muscle (Muscle weakness)
Presence / Absence of muscle weakness
Time frame: 5 years
Barthel Index
Evaluating activities of daily living by Barthel Index
Time frame: 5 years
Clinical findings of Heart
Presence / Absence of cardiac symptoms
Time frame: 5 years
Clinical findings of Liver
Presence / Absence of hepatomegaly
Time frame: 5 years
Clinical findings of Pancreas
Presence / Absence of diabetes mellitus
Time frame: 5 years
Manual muscle test
Evaluating muscles by Manual muscle test
Time frame: 5 years
Muscle biopsy
To evaluate lipid involvement and deposition
Time frame: 5 years
Myocardial biopsy
To evaluate lipid involvement and deposition
Time frame: 5 years
Skin biopsy
To evaluate lipid involvement and deposition
Time frame: 5 years
Respiratory function test
Evaluating muscles by Respiratory function test
Time frame: 5 years
6-minute walk distance
Evaluating heart function by 6-minute ｗalk distance
Time frame: 5 years
Treadmill endurance time
Evaluating heart function by treadmill endurance time
Time frame: 5 years
Cardiopulmonary exercise test
Evaluating heart function by cardiopulmonary exercise test
Time frame: 5 years
Skeletal muscle(CT)
Evaluating skeletal muscle using CT
Time frame: 5 years
Skeletal muscle(MRI)
Evaluating skeletal muscle using MRI
Time frame: 5 years
Skeletal muscle(electromyogram)
Evaluating skeletal muscle using electromyogram
Time frame: 5 years
Fatty liver(ultrasonography)
Evaluating fatty liver by ultrasonography
Time frame: 5 years
Thyroid(ultrasonography)
Evaluating thyroid by ultrasonography
Time frame: 5 years
Echocardiogram
Measuring echocardiogram
Time frame: 5 years
Cardiac CT
Measuring cardiac CT
Time frame: 5 years
Cardiac MRI
Measuring cardiac MRI
Time frame: 5 years
Coronary angiography
Measuring coronary angiography
Time frame: 5 years
Electrocardiogram
Measuring electrocardiogram
Time frame: 5 years
Holter monitoring
Measuring holter monitoring
Time frame: 5 years
BMIPP scintigram
Evaluating myocardial lipolysis
Time frame: 5 years
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