International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
Purpose
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.
Condition
- Neutral Lipid Storage Disease
Eligibility
- Eligible Ages
- All ages
- Eligible Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- Patients who are diagnosed with NLSD / TGCV
Exclusion Criteria
- None
Study Design
- Phase
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Other
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| NLSD / TGCV | Patients who are diagnosed with NLSD / TGCV |
Recruiting Locations
Stanford 5398563, California 5332921 94305-2004
Sean M Wu
+1-650-723-2300
New York 5128581, New York 5128638 10027
Salvatore DiMauro
+1-212-854-1754
More Details
- NCT ID
- NCT02918032
- Status
- Recruiting
- Sponsor
- Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
Study Contact
Kenichi Hirano, MD, Ph.D+81-6-6872-8215
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).