International registry for neutral lipid storage disease and related conditions

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

Observational Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan · NCT02918032

This study is trying to gather detailed information about people with Neutral Lipid Storage Disease and related conditions to better understand their experiences and improve treatment options.

Quick facts

Study typeObservational
Enrollment120 (estimated)
SexAll
SponsorTranslational Research Center for Medical Innovation, Kobe, Hyogo, Japan Academic / other
Locations15 sites (Stanford, California and 14 other locations)
Trial IDNCT02918032 on ClinicalTrials.gov

What this trial studies

This study aims to create an international registry to gather comprehensive data on patients diagnosed with Neutral Lipid Storage Disease (NLSD) and Triglyceride Deposit Cardiomyovasculopathy (TGCV). It will collect information on the onset, clinical manifestations, and natural history of these rare diseases, as well as explore prognostic factors and assess the efficacy of disease-specific treatments. The registry will include both prospective data from newly diagnosed patients and retrospective data from existing medical records. This collaborative effort is essential due to the rarity of the disease and the limited number of patients in each country.

Who should consider this trial

Good fit: Ideal candidates for this study are patients diagnosed with Neutral Lipid Storage Disease or Triglyceride Deposit Cardiomyovasculopathy.

Not a fit: Patients without a diagnosis of NLSD or TGCV will not benefit from this study.

Why it matters

Potential benefit: If successful, this registry could enhance understanding of NLSD and TGCV, leading to improved diagnosis and treatment options for patients.

How similar studies have performed: While studies on rare diseases often face challenges, international registries have shown success in improving understanding and treatment options for similar conditions.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Patients who are diagnosed with NLSD / TGCV

Exclusion Criteria:

* None

Where this trial is running

Stanford, California and 14 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Neutral Lipid Storage DiseaseJordans anomalyneutral lipid storage diseasetriglyceride deposit cardiovasculopathyATGL geneCGI-58 geneprimary triglyceride deposit cardiomyovasculopathyneutral lipid storage disease with myopathy
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.