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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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 Summary:

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).


Sponsor: Translational Research Informatics Center, Kobe, Hyogo, Japan

Current Primary Outcome: 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: Same as current

Current Secondary Outcome:

  • 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

    Original Secondary Outcome:

    • 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

      Information By: Translational Research Informatics Center, Kobe, Hyogo, Japan

      Dates:
      Date Received: August 4, 2016
      Date Started: January 2014
      Date Completion: October 2020
      Last Updated: October 4, 2016
      Last Verified: October 2016