Recruiting

Neutral Lipid Storage Disease

Sponsor:

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

Code:

NCT02918032

Conditions

Neutral Lipid Storage Disease

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Neutral Lipid Storage Disease

Study ID

NCT02918032

Start date

Jan, 2014

Status verified date

Feb, 2026

Completion date

Mar 31, 2028

Anticipated

Primary completion date

Mar 31, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Patients who are diagnosed with NLSD / TGCV

Exclusion Criteria:

  • None

Study Design

Enrollment

120 participants

Anticipated

Interventions and Outcome Measures

Arms

NLSD / TGCV

Patients who are diagnosed with NLSD / TGCV

Primary outcome measure

  • Period from the diagnosis of NLSD / TGCV to death from any cause [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Kenichi Hirano, MD, Ph.D

+81-6-6872-8215

Locations

Stanford University

Recruiting

Stanford, California, United States, 94305-2004

Contacts

Sean M Wu

+1-650-723-2300

Columbia University

Recruiting

New York, New York, United States, 10027

Contacts

Salvatore DiMauro

+1-212-854-1754

More Information

Sponsor

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

Last update posted

Feb 5, 2026

Last verified

Feb, 2026

Keywords

  • Jordans anomaly
  • neutral lipid storage disease
  • triglyceride deposit cardiovasculopathy
  • ATGL gene
  • CGI-58 gene
  • primary triglyceride deposit cardiomyovasculopathy (TGCV)
  • neutral lipid storage disease with myopathy (NLSD-M)

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan on 2026-02-05.