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.

Study Overview

• Status: Recruiting
• Conditions: 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
• Enrollment (Estimated): 120

Contacts and Locations

• Study Contact: Name: Kenichi Hirano, MD, Ph.D; Phone Number: +81-6-6872-8215

Study Locations

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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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

Description

Inclusion Criteria:

• Patients who are diagnosed with NLSD / TGCV

Exclusion Criteria:

• None

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

Number of groups / cohorts

1

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Serum CK(Creatine Kinase) level	Evaluating the serum CK level by measuring	5 years
Serum BNP(B-type Natriuretic Peptide) level	Evaluating serum BNP level by measuring	5 years
Serum AST(Aspartate transaminase) level	Evaluating serum AST level by measuring	5 years
Serum ALT(Alanine transaminase) level	Evaluating serum ALT level by measuring	5 years
Serum TG level	Evaluating serum TG level by measuring	5 years
Plasma glucose level	Evaluating plasma glucose level by measuring	5 years
HbA1c	Evaluating HbA1c by measuring	5 years
TSH(thyroid-stimulating hormone)	Evaluating TSH by measuring	5 years
Free T4	Evaluating Free T4 by measuring	5 years
Ichthyosis	Presence / Absence of Ichthyosis within 5 years	5 years
Jordans' anomaly	Presence / Absence of Jordans' anomaly within 5 years	5 years
Neurosensory disorders	Presence / Absence of neurosensory disorders	5 years
Mental retardation	Presence / Absence of mental retardation	5 years
Hearing loss	Presence / Absence of hearing loss	5 years
Skeletal muscle (Musculoskeletal symptoms)	Presence / Absence of musculoskeletal symptoms	5 years
Skeletal muscle (Muscle weakness)	Presence / Absence of muscle weakness	5 years
Barthel Index	Evaluating activities of daily living by Barthel Index	5 years
Clinical findings of Heart	Presence / Absence of cardiac symptoms	5 years
Clinical findings of Liver	Presence / Absence of hepatomegaly	5 years
Clinical findings of Pancreas	Presence / Absence of diabetes mellitus	5 years
Manual muscle test	Evaluating muscles by Manual muscle test	5 years
Muscle biopsy	To evaluate lipid involvement and deposition	5 years
Myocardial biopsy	To evaluate lipid involvement and deposition	5 years
Skin biopsy	To evaluate lipid involvement and deposition	5 years
Respiratory function test	Evaluating muscles by Respiratory function test	5 years
6-minute walk distance	Evaluating heart function by 6-minute ｗalk distance	5 years
Treadmill endurance time	Evaluating heart function by treadmill endurance time	5 years
Cardiopulmonary exercise test	Evaluating heart function by cardiopulmonary exercise test	5 years
Skeletal muscle(CT)	Evaluating skeletal muscle using CT	5 years
Skeletal muscle(MRI)	Evaluating skeletal muscle using MRI	5 years
Skeletal muscle(electromyogram)	Evaluating skeletal muscle using electromyogram	5 years
Fatty liver(ultrasonography)	Evaluating fatty liver by ultrasonography	5 years
Thyroid(ultrasonography)	Evaluating thyroid by ultrasonography	5 years
Echocardiogram	Measuring echocardiogram	5 years
Cardiac CT	Measuring cardiac CT	5 years
Cardiac MRI	Measuring cardiac MRI	5 years
Coronary angiography	Measuring coronary angiography	5 years
Electrocardiogram	Measuring electrocardiogram	5 years
Holter monitoring	Measuring holter monitoring	5 years
BMIPP scintigram	Evaluating myocardial lipolysis	5 years

Collaborators and Investigators

• Sponsor: 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

Study record dates

Study Major Dates

• Study Start: January 1, 2014
• Primary Completion (Estimated): March 1, 2025
• Study Completion (Estimated): March 1, 2025

Study Registration Dates

• First Submitted: August 4, 2016
• First Submitted That Met QC Criteria: September 26, 2016
• First Posted (Estimated): September 28, 2016

Study Record Updates

• Last Update Posted (Estimated): November 9, 2023
• Last Update Submitted That Met QC Criteria: November 6, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Keywords: neutral lipid storage disease; primary triglyceride deposit cardiomyovasculopathy (TGCV); neutral lipid storage disease with myopathy (NLSD-M); Jordans anomaly; triglyceride deposit cardiovasculopathy; ATGL gene; CGI-58 gene
• Additional Relevant MeSH Terms: Nervous System Diseases; Skin Diseases; Congenital Abnormalities; Infant, Newborn, Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Neuromuscular Diseases; Skin Diseases, Genetic; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Skin Abnormalities; Keratosis; Ichthyosis; Muscular Diseases; Metabolic Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Ichthyosiform Erythroderma, Congenital
• Other Study ID Numbers: TRICVD1315