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

NCT ID: NCT02918032

Last Updated: 2026-02-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

120 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-01-31

Study Completion Date

2028-03-31

Brief Summary

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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

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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).

Conditions

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Neutral Lipid Storage Disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Study Groups

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NLSD / TGCV

Patients who are diagnosed with NLSD / TGCV

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Patients who are diagnosed with NLSD / TGCV

Exclusion Criteria

* None
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Kenichi Hirano, MD, Ph.D

Role: PRINCIPAL_INVESTIGATOR

Department of Cardiovascular Medicine, Faculty of Internal Medicine, Graduate School of Osaka University

Locations

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Stanford University

Stanford, California, United States

Site Status RECRUITING

Columbia University

New York, New York, United States

Site Status RECRUITING

University of Graz

Graz, Styria, Austria

Site Status RECRUITING

Peking University First Hospital

Beijing, Beijing Municipality, China

Site Status RECRUITING

Pitié-Salpêtrière Hospital

Paris, Paris, France

Site Status RECRUITING

Ludwig-Maximilians University

Munich, Bavaria, Germany

Site Status RECRUITING

Sapienza University of Rome

Rome, Lazio, Italy

Site Status RECRUITING

A.C.O. San Filippo Neri Hospital

Rome, Lazio, Italy

Site Status RECRUITING

Catholic University

Milan, Lombardy, Italy

Site Status RECRUITING

University of Padova

Padua, Veneto, Italy

Site Status RECRUITING

Graduate School of Osaka University

Suita, Osaka, Japan

Site Status RECRUITING

National Center of Neurology and Psychiatry

Kodaira, Tokyo, Japan

Site Status RECRUITING

Maastricht University

Maastricht, Limburg, Netherlands

Site Status RECRUITING

Harefield Hospital

Harefield, London, United Kingdom

Site Status RECRUITING

New Castle University

Newcastle upon Tyne, Tyne and Wear, United Kingdom

Site Status RECRUITING

Countries

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United States Austria China France Germany Italy Japan Netherlands United Kingdom

Central Contacts

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Kenichi Hirano, MD, Ph.D

Role: CONTACT

+81-6-6872-8215

Facility Contacts

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Sean M Wu

Role: primary

+1-650-723-2300

Salvatore DiMauro

Role: primary

+1-212-854-1754

Rudolf Zechner

Role: primary

+43-316-380-0

Yun Yuan

Role: primary

+86-66551122

Pascal Laforêt

Role: primary

+33-1-42-16-00-00

Karim Wahbi

Role: backup

+33-1-42-16-00-00

Peter Reilich

Role: primary

+49-89-2180-0

Marcello Arca

Role: primary

+39-6-49911

Elena M Pennisi, MD, Ph.D.

Role: primary

+39-6-33061

Daniela Tavian, MD

Role: primary

+39-2-72341

Corrado Angelini

Role: primary

+39-49-827-5111

Kenichi Hirano, MD, Ph.D.

Role: primary

+81-6-6872-8215

Ichizo Nishino

Role: primary

+81-42-341-2711

Matthijs Hesselink

Role: primary

+31-43-388-2222

Nick Banner

Role: primary

+44-1895-823-737

Rita Horvath

Role: primary

+44-191-208-6000

Other Identifiers

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TRICVD1315

Identifier Type: -

Identifier Source: org_study_id

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