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NCT Number: NCT02918032

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

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.

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Key information

Conditions

Neutral Lipid Storage Disease Chanarin-Dorfman Syndrome Neutral Lipid Storage Disease with Myopathy

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Graz, Graz, Styria, Austria

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About this study

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).

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Patients who are diagnosed with NLSD / TGCV

Exclusion criteria

  • None

Treatment and study plan

Primary outcomes

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

    Time frame: 5 years

    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.

Secondary outcomes

  1. Serum CK(Creatine Kinase) level

    Time frame: 5 years

    Evaluating the serum CK level by measuring

  2. Serum BNP(B-type Natriuretic Peptide) level

    Time frame: 5 years

    Evaluating serum BNP level by measuring

  3. Serum AST(Aspartate transaminase) level

    Time frame: 5 years

    Evaluating serum AST level by measuring

  4. Serum ALT(Alanine transaminase) level

    Time frame: 5 years

    Evaluating serum ALT level by measuring

  5. Serum TG level

    Time frame: 5 years

    Evaluating serum TG level by measuring

  6. Plasma glucose level

    Time frame: 5 years

    Evaluating plasma glucose level by measuring

  7. HbA1c

    Time frame: 5 years

    Evaluating HbA1c by measuring

  8. TSH(thyroid-stimulating hormone)

    Time frame: 5 years

    Evaluating TSH by measuring

  9. Free T4

    Time frame: 5 years

    Evaluating Free T4 by measuring

  10. Ichthyosis

    Time frame: 5 years

    Presence / Absence of Ichthyosis within 5 years

  11. Jordans' anomaly

    Time frame: 5 years

    Presence / Absence of Jordans' anomaly within 5 years

  12. Neurosensory disorders

    Time frame: 5 years

    Presence / Absence of neurosensory disorders

  13. Mental retardation

    Time frame: 5 years

    Presence / Absence of mental retardation

  14. Hearing loss

    Time frame: 5 years

    Presence / Absence of hearing loss

  15. Skeletal muscle (Musculoskeletal symptoms)

    Time frame: 5 years

    Presence / Absence of musculoskeletal symptoms

  16. Skeletal muscle (Muscle weakness)

    Time frame: 5 years

    Presence / Absence of muscle weakness

  17. Barthel Index

    Time frame: 5 years

    Evaluating activities of daily living by Barthel Index

  18. Clinical findings of Heart

    Time frame: 5 years

    Presence / Absence of cardiac symptoms

  19. Clinical findings of Liver

    Time frame: 5 years

    Presence / Absence of hepatomegaly

  20. Clinical findings of Pancreas

    Time frame: 5 years

    Presence / Absence of diabetes mellitus

  21. Manual muscle test

    Time frame: 5 years

    Evaluating muscles by Manual muscle test

  22. Muscle biopsy

    Time frame: 5 years

    To evaluate lipid involvement and deposition

  23. Myocardial biopsy

    Time frame: 5 years

    To evaluate lipid involvement and deposition

  24. Skin biopsy

    Time frame: 5 years

    To evaluate lipid involvement and deposition

  25. Respiratory function test

    Time frame: 5 years

    Evaluating muscles by Respiratory function test

  26. 6-minute walk distance

    Time frame: 5 years

    Evaluating heart function by 6-minute ｗalk distance

  27. Treadmill endurance time

    Time frame: 5 years

    Evaluating heart function by treadmill endurance time

  28. Cardiopulmonary exercise test

    Time frame: 5 years

    Evaluating heart function by cardiopulmonary exercise test

  29. Skeletal muscle(CT)

    Time frame: 5 years

    Evaluating skeletal muscle using CT

  30. Skeletal muscle(MRI)

    Time frame: 5 years

    Evaluating skeletal muscle using MRI

  31. Skeletal muscle(electromyogram)

    Time frame: 5 years

    Evaluating skeletal muscle using electromyogram

  32. Fatty liver(ultrasonography)

    Time frame: 5 years

    Evaluating fatty liver by ultrasonography

  33. Thyroid(ultrasonography)

    Time frame: 5 years

    Evaluating thyroid by ultrasonography

  34. Echocardiogram

    Time frame: 5 years

    Measuring echocardiogram

  35. Cardiac CT

    Time frame: 5 years

    Measuring cardiac CT

  36. Cardiac MRI

    Time frame: 5 years

    Measuring cardiac MRI

  37. Coronary angiography

    Time frame: 5 years

    Measuring coronary angiography

  38. Electrocardiogram

    Time frame: 5 years

    Measuring electrocardiogram

  39. Holter monitoring

    Time frame: 5 years

    Measuring holter monitoring

  40. BMIPP scintigram

    Time frame: 5 years

    Evaluating myocardial lipolysis

Study contacts

Contact information is provided by the study sponsor or research team.

Kenichi Hirano, MD, Ph.D

CONTACT

+81-6-6872-8215

Sponsors and collaborators

Lead sponsor

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

Other

Registry information

Important dates

Study start
2014
Primary completion
2028
Study completion
2028
First posted
Sep 28, 2016
Registry last updated
Feb 5, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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