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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02918032
Recruitment Status : Recruiting
First Posted : September 28, 2016
Last Update Posted : April 5, 2019
Sponsor:
Information provided by (Responsible Party):
Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan

Tracking Information
First Submitted Date August 4, 2016
First Posted Date September 28, 2016
Last Update Posted Date April 5, 2019
Study Start Date January 2014
Estimated Primary Completion Date October 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: September 26, 2016)
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.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: September 28, 2016)
  • Serum CK(Creatine Kinase) level [ Time Frame: 5 years ]
    Evaluating the serum CK level by measuring
  • Serum BNP(B-type Natriuretic Peptide) level [ Time Frame: 5 years ]
    Evaluating serum BNP level by measuring
  • Serum AST(Aspartate transaminase) level [ Time Frame: 5 years ]
    Evaluating serum AST level by measuring
  • Serum ALT(Alanine transaminase) level [ Time Frame: 5 years ]
    Evaluating serum ALT level by measuring
  • Serum TG level [ Time Frame: 5 years ]
    Evaluating serum TG level by measuring
  • Plasma glucose level [ Time Frame: 5 years ]
    Evaluating plasma glucose level by measuring
  • HbA1c [ Time Frame: 5 years ]
    Evaluating HbA1c by measuring
  • TSH(thyroid-stimulating hormone) [ Time Frame: 5 years ]
    Evaluating TSH by measuring
  • Free T4 [ Time Frame: 5 years ]
    Evaluating Free T4 by measuring
  • Ichthyosis [ Time Frame: 5 years ]
    Presence / Absence of Ichthyosis within 5 years
  • Jordans' anomaly [ Time Frame: 5 years ]
    Presence / Absence of Jordans' anomaly within 5 years
  • Neurosensory disorders [ Time Frame: 5 years ]
    Presence / Absence of neurosensory disorders
  • Mental retardation [ Time Frame: 5 years ]
    Presence / Absence of mental retardation
  • Hearing loss [ Time Frame: 5 years ]
    Presence / Absence of hearing loss
  • Skeletal muscle (Musculoskeletal symptoms) [ Time Frame: 5 years ]
    Presence / Absence of musculoskeletal symptoms
  • Skeletal muscle (Muscle weakness) [ Time Frame: 5 years ]
    Presence / Absence of muscle weakness
  • Barthel Index [ Time Frame: 5 years ]
    Evaluating activities of daily living by Barthel Index
  • Clinical findings of Heart [ Time Frame: 5 years ]
    Presence / Absence of cardiac symptoms
  • Clinical findings of Liver [ Time Frame: 5 years ]
    Presence / Absence of hepatomegaly
  • Clinical findings of Pancreas [ Time Frame: 5 years ]
    Presence / Absence of diabetes mellitus
  • Manual muscle test [ Time Frame: 5 years ]
    Evaluating muscles by Manual muscle test
  • Muscle biopsy [ Time Frame: 5 years ]
  • Myocardial biopsy [ Time Frame: 5 years ]
  • Skin biopsy [ Time Frame: 5 years ]
  • Respiratory function test [ Time Frame: 5 years ]
    Evaluating muscles by Respiratory function test
  • 6-minute walk distance [ Time Frame: 5 years ]
    Evaluating heart function by 6-minute walk distance
  • Treadmill endurance time [ Time Frame: 5 years ]
    Evaluating heart function by treadmill endurance time
  • Cardiopulmonary exercise test [ Time Frame: 5 years ]
    Evaluating heart function by cardiopulmonary exercise test
  • Skeletal muscle(CT) [ Time Frame: 5 years ]
    Evaluating skeletal muscle using CT
  • Skeletal muscle(MRI) [ Time Frame: 5 years ]
    Evaluating skeletal muscle using MRI
  • Skeletal muscle(electromyogram) [ Time Frame: 5 years ]
    Evaluating skeletal muscle using electromyogram
  • Fatty liver(ultrasonography) [ Time Frame: 5 years ]
    Evaluating fatty liver by ultrasonography
  • Thyroid(ultrasonography) [ Time Frame: 5 years ]
    Evaluating thyroid by ultrasonography
  • Echocardiogram [ Time Frame: 5 years ]
    Measuring echocardiogram
  • Cardiac CT [ Time Frame: 5 years ]
    Measuring cardiac CT
  • Cardiac MRI [ Time Frame: 5 years ]
    Measuring cardiac MRI
  • Coronary angiography [ Time Frame: 5 years ]
    Measuring coronary angiography
  • Electrocardiogram [ Time Frame: 5 years ]
    Measuring electrocardiogram
  • Holter monitoring [ Time Frame: 5 years ]
    Measuring holter monitoring
Original Secondary Outcome Measures
 (submitted: September 26, 2016)
  • Serum CK(Creatine Kinase) level [ Time Frame: 5 years ]
    Evaluating the serum CK level by measuring
  • Serum BNP(B-type Natriuretic Peptide) level [ Time Frame: 5 years ]
    Evaluating serum BNP level by measuring
  • Serum AST(Aspartate transaminase) level [ Time Frame: 5 years ]
    Evaluating serum AST level by measuring
  • Serum ALT(Alanine transaminase) level [ Time Frame: 5 years ]
    Evaluating serum ALT level by measuring
  • Serum TG level [ Time Frame: 5 years ]
    Evaluating serum TG level by measuring
  • Plasma glucose level [ Time Frame: 5 years ]
    Evaluating plasma glucose level by measuring
  • HbA1c [ Time Frame: 5 years ]
    Evaluating HbA1c by measuring
  • TSH(thyroid-stimulating hormone) [ Time Frame: 5 years ]
    Evaluating TSH by measuring
  • Free T4 [ Time Frame: 5 years ]
    Evaluating Free T4 by measuring
  • Ichthyosis [ Time Frame: 5 years ]
    Presence / Absence of Ichthyosis within 5 years
  • Jordans' anomaly [ Time Frame: 5 years ]
    Presence / Absence of Jordans' anomaly within 5 years
  • Neurosensory disorders [ Time Frame: 5 years ]
    Presence / Absence of neurosensory disorders
  • Mental retardation [ Time Frame: 5 years ]
    Presence / Absence of mental retardation
  • Hearing loss [ Time Frame: 5 years ]
    Presence / Absence of hearing loss
  • Skeletal muscle (Musculoskeletal symptons) [ Time Frame: 5 years ]
    Presence / Absence of musculoskeletal symptons
  • Skeletal muscle (Muscle weakness) [ Time Frame: 5 years ]
    Presence / Absence of muscle weakness
  • Barthel Index [ Time Frame: 5 years ]
    Evaluating activities of daily living by Barthel Index
  • Clinical findings of Heart [ Time Frame: 5 years ]
    Presence / Absence of cardiac symptoms
  • Clinical findings of Liver [ Time Frame: 5 years ]
    Presence / Absence of hepatomegaly
  • Clinical findings of Pancreas [ Time Frame: 5 years ]
    Presence / Absence of diabetes mellitus
  • Manual muscle test [ Time Frame: 5 years ]
    Evaluating muscles by Manual muscle test
  • Muscle biopsy [ Time Frame: 5 years ]
  • Myocardial biopsy [ Time Frame: 5 years ]
  • Skin biopsy [ Time Frame: 5 years ]
  • Respiratory function test [ Time Frame: 5 years ]
    Evaluating muscles by Respiratory function test
  • 6-minute walk distance [ Time Frame: 5 years ]
    Evaluating heart function by 6-minute walk distance
  • Treadmill endurance time [ Time Frame: 5 years ]
    Evaluating heart function by treadmill endurance time
  • Cardiopulmonary exercise test [ Time Frame: 5 years ]
    Evaluating heart function by cardiopulmonary exercise test
  • Skeletal muscle(CT) [ Time Frame: 5 years ]
    Evaluating skeletal muscle using CT
  • Skeletal muscle(MRI) [ Time Frame: 5 years ]
    Evaluating skeletal muscle using MRI
  • Skeletal muscle(electromyogram) [ Time Frame: 5 years ]
    Evaluating skeletal muscle using electromyogram
  • Fatty liver(ultrasonography) [ Time Frame: 5 years ]
    Evaluating fatty liver by ultrasonography
  • Thyroid(ultrasonography) [ Time Frame: 5 years ]
    Evaluating thyroid by ultrasonography
  • Echocardiogram [ Time Frame: 5 years ]
    Measuring echocardiogram
  • Cardiac CT [ Time Frame: 5 years ]
    Measuring cardiac CT
  • Cardiac MRI [ Time Frame: 5 years ]
    Measuring cardiac MRI
  • Coronary angiography [ Time Frame: 5 years ]
    Measuring coronary angiography
  • Electrocardiogram [ Time Frame: 5 years ]
    Measuring electrocardiogram
  • Holter monitoring [ Time Frame: 5 years ]
    Measuring holter monitoring
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
Official Title International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
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.
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
Study Design Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
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).
Condition Neutral Lipid Storage Disease
Intervention Not Provided
Study Groups/Cohorts NLSD / TGCV
Patients who are diagnosed with NLSD / TGCV
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: September 26, 2016)
100
Original Estimated Enrollment Same as current
Estimated Study Completion Date October 2020
Estimated Primary Completion Date October 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • None
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Kenichi Hirano, MD, Ph.D +81-6-6872-8215
Listed Location Countries Austria,   China,   France,   Germany,   Italy,   Japan,   Netherlands,   United Kingdom,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02918032
Other Study ID Numbers TRICVD1315
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
Study Sponsor Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
Collaborators Not Provided
Investigators
Principal Investigator: Kenichi Hirano, MD, Ph.D Department of Cardiovascular Medicine, Faculty of Internal Medicine, Graduate School of Osaka University
PRS Account Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
Verification Date April 2019