NCT02918032

Brief Summary

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.

Trial Health

83
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
120

participants targeted

Target at P50-P75 for all trials

Timeline
23mo left

Started Jan 2014

Longer than P75 for all trials

Geographic Reach
9 countries

15 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress87%
Jan 2014Mar 2028

Study Start

First participant enrolled

January 1, 2014

Completed
2.6 years until next milestone

First Submitted

Initial submission to the registry

August 4, 2016

Completed
2 months until next milestone

First Posted

Study publicly available on registry

September 28, 2016

Completed
11.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 31, 2028

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 31, 2028

Last Updated

February 5, 2026

Status Verified

February 1, 2026

Enrollment Period

14.3 years

First QC Date

August 4, 2016

Last Update Submit

February 2, 2026

Conditions

Neutral Lipid Storage Disease

Keywords

Jordans anomalyneutral lipid storage diseasetriglyceride deposit cardiovasculopathyATGL geneCGI-58 geneprimary triglyceride deposit cardiomyovasculopathy (TGCV)neutral lipid storage disease with myopathy (NLSD-M)

Outcome Measures

Primary Outcomes (1)

  • Period from the diagnosis of NLSD / TGCV to death from any cause

    This is the period from the date of diagnosis of NLSD / TGCV to the date of death from any cause. The last date of confirmation of survival will be used as the cut-off date for living patients and patients who are lost to follow-up.

    5 years

Secondary Outcomes (40)

  • Serum CK(Creatine Kinase) level

    5 years

  • Serum BNP(B-type Natriuretic Peptide) level

    5 years

  • Serum AST(Aspartate transaminase) level

    5 years

  • Serum ALT(Alanine transaminase) level

    5 years

  • Serum TG level

    5 years

  • +35 more secondary outcomes

Study Arms (1)

NLSD / TGCV

Patients who are diagnosed with NLSD / TGCV

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients who are diagnosed with NLSD /TGCV (including adults only)

You may qualify if:

  • Patients who are diagnosed with NLSD / TGCV

You may not qualify if:

  • None

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (15)

Stanford University

Stanford, California, 94305-2004, United States

RECRUITING

Columbia University

New York, New York, 10027, United States

RECRUITING

University of Graz

Graz, Styria, 8010, Austria

RECRUITING

Peking University First Hospital

Beijing, Beijing Municipality, 100034, China

RECRUITING

Pitié-Salpêtrière Hospital

Paris, Paris, 75013, France

RECRUITING

Ludwig-Maximilians University

Munich, Bavaria, 80539, Germany

RECRUITING

Sapienza University of Rome

Rome, Lazio, 00185, Italy

RECRUITING

A.C.O. San Filippo Neri Hospital

Rome, Lazio, 00193, Italy

RECRUITING

Catholic University

Milan, Lombardy, 20123, Italy

RECRUITING

University of Padova

Padua, Veneto, 35122, Italy

RECRUITING

Graduate School of Osaka University

Suita, Osaka, 565-0874, Japan

RECRUITING

National Center of Neurology and Psychiatry

Kodaira, Tokyo, 187-8551, Japan

RECRUITING

Maastricht University

Maastricht, Limburg, 6211, Netherlands

RECRUITING

Harefield Hospital

Harefield, London, UB9 6JH, United Kingdom

RECRUITING

New Castle University

Newcastle upon Tyne, Tyne and Wear, NE1 7RU, United Kingdom

RECRUITING

MeSH Terms

Conditions

Chanarin-Dorfman SyndromeNeutral Lipid Storage Disease with Myopathy

Study Officials

  • Kenichi Hirano, MD, Ph.D

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

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Kenichi Hirano, MD, Ph.D

CONTACT

+81-6-6872-8215

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
OTHER
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 4, 2016

First Posted

September 28, 2016

Study Start

January 1, 2014

Primary Completion (Estimated)

March 31, 2028

Study Completion (Estimated)

March 31, 2028

Last Updated

February 5, 2026

Record last verified: 2026-02

Locations

FR(1)CN(1)DE(1)IT(4)NL(1)AU(1)US(2)GB(2)JP(2)