International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases

Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan

Status: Enrolling

Conditions: Neutral Lipid Storage Disease

Study type: Observational

Funder types: Other

Identifiers

NCT02918032

TRICVD1315

Details and patient eligibility

About

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.

Full 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).

Enrollment: 120 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patients who are diagnosed with NLSD / TGCV

Exclusion criteria

• None

Trial design

120 participants in 1 patient group

NLSD / TGCV

Description:

Patients who are diagnosed with NLSD / TGCV