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

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ClinicalTrials.gov Identifier: NCT02918032
Recruitment Status : Recruiting
First Posted : September 28, 2016
Last Update Posted : December 19, 2017
Sponsor:
Information provided by (Responsible Party):
Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan

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.

Condition or disease
Neutral Lipid Storage Disease

Detailed Description:

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).


Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
Study Start Date : January 2014
Estimated Primary Completion Date : December 2018
Estimated Study Completion Date : October 2020


Group/Cohort
NLSD / TGCV
Patients who are diagnosed with NLSD / TGCV



Primary Outcome Measures :
  1. Period from the onset of symptoms of NLSD / TGCV to death from any cause [ Time Frame: 5 years ]
    This is the period from the date of onset of symptoms 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 Outcome Measures :
  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 ]
  23. Myocardial biopsy [ Time Frame: 5 years ]
  24. Skin biopsy [ Time Frame: 5 years ]
  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



Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients who are diagnosed with NLSD / TGCV with Jordans' anomaly of peripheral polymorphonuclear leukocytes before December 31, 2018 (including patients under 20 years of age).
Criteria

Inclusion Criteria:

  • Patients who are diagnosed with NLSD / TGCV before December31, 2018

Exclusion Criteria:


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02918032


Contacts
Contact: Kenichi Hirano, MD, Ph.D +81-6-6872-8215

Locations
United States, California
Stanford University Recruiting
Stanford, California, United States, 94305-2004
Contact: Sean M Wu    650-723-2300      
United States, New York
Columbia University Recruiting
New York, New York, United States, 10027
Contact: Salvatore DiMauro    212-854-1754      
Austria
University of Graz Recruiting
Graz, Steiermark, Austria, 8010
Contact: Rudolf Zechner    +43-316-380-0      
China, Beijing
Peking University First Hospital Recruiting
Beijing, Beijing, China, 100034
Contact: Yun Yuan    +86-66551122      
France
Pitié-Salpêtrière Hospital Recruiting
Paris, France, 75013
Contact: Pascal Laforêt    +33-1-42-16-00-00      
Contact: Karim Wahbi    +33-1-42-16-00-00      
Germany
Ludwig-Maximilians University Recruiting
Munich, Bayern, Germany, 80539
Contact: Peter Reilich    +49-89-2180-0      
Italy
Sapienza University of Rome Recruiting
Rome, Lazio, Italy, 00185
Contact: Marcello Arca    +39-6-49911      
A.C.O. San Filippo Neri Hospital Recruiting
Rome, Lazio, Italy, 00193
Contact: Elena M Pennisi, MD, Ph.D.    +39-6-33061      
Catholic University Recruiting
Milano, Lombardia, Italy, 20123
Contact: Daniela Tavian, MD    +39-2-72341      
University of Padova Recruiting
Padova, Veneto, Italy, 35122
Contact: Corrado Angelini    +39-49-827-5111      
Japan
Graduate School of Osaka University Recruiting
Suita-city, Osaka-prefecture, Japan, 565-0874
Contact: Kenichi Hirano, MD, Ph.D.    +81-6-6872-8215      
National Center of Neurology and Psychiatry Recruiting
Kodaira-city, Tokyo, Japan, 187-8551
Contact: Ichizo Nishino    +81-42-341-2711      
Netherlands
Maastricht University Recruiting
Maastricht, Limburg, Netherlands, 6211
Contact: Matthijs Hesselink    +31-43-388-2222      
United Kingdom
Harefield Hospital Recruiting
Harefield, London, United Kingdom, UB9 6JH
Contact: Nick Banner    +44-1895-823-737      
New Castle University Recruiting
Newcastle upon Tyne, Tyne And Wear, United Kingdom, NE1 7RU
Contact: Rita Horvath    +44-191-208-6000      
Sponsors and Collaborators
Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
Investigators
Principal Investigator: Kenichi Hirano, MD, Ph.D Department of Cardiovascular Medicine, Faculty of Internal Medicine, Graduate School of Osaka University

Responsible Party: Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
ClinicalTrials.gov Identifier: NCT02918032     History of Changes
Other Study ID Numbers: TRICVD1315
First Posted: September 28, 2016    Key Record Dates
Last Update Posted: December 19, 2017
Last Verified: December 2017

Keywords provided by Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan:
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)

Additional relevant MeSH terms:
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Muscular Diseases
Ichthyosiform Erythroderma, Congenital
Lipidoses
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism Disorders
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Ichthyosis
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Infant, Newborn, Diseases
Keratosis
Skin Diseases