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

Status:	Recruiting
Conditions:	Neurology, Endocrine
Therapuetic Areas:	Endocrinology, Neurology
Healthy:	No
Age Range:	Any
Updated:	4/6/2019
Start Date:	January 2014
End Date:	October 2020
Contact:	Kenichi Hirano, MD, Ph.D
Phone:	+81-6-6872-8215

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).

Inclusion Criteria:

- Patients who are diagnosed with NLSD / TGCV before December31, 2018

Exclusion Criteria:

We found this trial at

sites

Columbia University

116th St and Broadway
New York, New York 10027

(212) 854-1754