International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Enrollment
- 120
- Locations
- 15
- Primary Endpoint
- Period from the diagnosis of NLSD / TGCV to death from any cause
Study Overview
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).
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Other
Eligibility Criteria
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •Patients who are diagnosed with NLSD / TGCV
Exclusion Criteria
- Not provided
Arms & Interventions
NLSD / TGCV
Patients who are diagnosed with NLSD / TGCV
Outcomes
Primary Outcomes
Period from the diagnosis of NLSD / TGCV to death from any cause
Time Frame: 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 Outcomes
- Respiratory function test(5 years)
- Skin biopsy(5 years)
- Serum TG level(5 years)
- Clinical findings of Heart(5 years)
- Serum AST(Aspartate transaminase) level(5 years)
- Serum ALT(Alanine transaminase) level(5 years)
- HbA1c(5 years)
- Barthel Index(5 years)
- TSH(thyroid-stimulating hormone)(5 years)
- Free T4(5 years)
- Skeletal muscle (Musculoskeletal symptoms)(5 years)
- Skeletal muscle(CT)(5 years)
- Cardiac MRI(5 years)
- Holter monitoring(5 years)
- Plasma glucose level(5 years)
- Jordans' anomaly(5 years)
- Hearing loss(5 years)
- Skeletal muscle (Muscle weakness)(5 years)
- Clinical findings of Liver(5 years)
- 6-minute walk distance(5 years)
- Treadmill endurance time(5 years)
- Skeletal muscle(MRI)(5 years)
- Skeletal muscle(electromyogram)(5 years)
- Thyroid(ultrasonography)(5 years)
- Coronary angiography(5 years)
- Serum CK(Creatine Kinase) level(5 years)
- Serum BNP(B-type Natriuretic Peptide) level(5 years)
- Ichthyosis(5 years)
- Neurosensory disorders(5 years)
- Mental retardation(5 years)
- Clinical findings of Pancreas(5 years)
- Manual muscle test(5 years)
- Muscle biopsy(5 years)
- Myocardial biopsy(5 years)
- Cardiopulmonary exercise test(5 years)
- Echocardiogram(5 years)
- Cardiac CT(5 years)
- Electrocardiogram(5 years)
- BMIPP scintigram(5 years)
- Fatty liver(ultrasonography)(5 years)