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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

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

ArmDescriptionAssigned Intervention
NLSD / TGCV Patients who are diagnosed with NLSD / TGCV

Recruiting Locations

Stanford University
Stanford 5398563, California 5332921 94305-2004
Contact:
Sean M Wu
+1-650-723-2300

Columbia University
New York 5128581, New York 5128638 10027
Contact:
Salvatore DiMauro
+1-212-854-1754

More Details

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).

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.