Clinical trial NCT02918032: 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
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Neutral Lipid Storage Disease
Keywords: 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)
Lead sponsor: Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
Sponsor class: OTHER
First posted: 2016-09-28
Enrollment: 120
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients who are diagnosed with NLSD /TGCV (including adults only)

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).

Eligibility criteria: Inclusion Criteria:

* Patients who are diagnosed with NLSD / TGCV

Exclusion Criteria:

* None

Primary outcomes:
measure: Period from the diagnosis of NLSD / TGCV to death from any cause
timeFrame: 5 years
Secondary outcomes:
measure: Serum CK(Creatine Kinase) level
timeFrame: 5 years
measure: Serum BNP(B-type Natriuretic Peptide) level
timeFrame: 5 years
measure: Serum AST(Aspartate transaminase) level
timeFrame: 5 years
measure: Serum ALT(Alanine transaminase) level
timeFrame: 5 years
measure: Serum TG level
timeFrame: 5 years
measure: Plasma glucose level
timeFrame: 5 years
measure: HbA1c
timeFrame: 5 years
measure: TSH(thyroid-stimulating hormone)
timeFrame: 5 years
measure: Free T4
timeFrame: 5 years
measure: Ichthyosis
timeFrame: 5 years
measure: Jordans' anomaly
timeFrame: 5 years
measure: Neurosensory disorders
timeFrame: 5 years
measure: Mental retardation
timeFrame: 5 years
measure: Hearing loss
timeFrame: 5 years
measure: Skeletal muscle (Musculoskeletal symptoms)
timeFrame: 5 years
measure: Skeletal muscle (Muscle weakness)
timeFrame: 5 years
measure: Barthel Index
timeFrame: 5 years
measure: Clinical findings of Heart
timeFrame: 5 years
measure: Clinical findings of Liver
timeFrame: 5 years
measure: Clinical findings of Pancreas
timeFrame: 5 years
measure: Manual muscle test
timeFrame: 5 years
measure: Muscle biopsy
timeFrame: 5 years
measure: Myocardial biopsy
timeFrame: 5 years
measure: Skin biopsy
timeFrame: 5 years
measure: Respiratory function test
timeFrame: 5 years
measure: 6-minute walk distance
timeFrame: 5 years
measure: Treadmill endurance time
timeFrame: 5 years
measure: Cardiopulmonary exercise test
timeFrame: 5 years
measure: Skeletal muscle(CT)
timeFrame: 5 years
measure: Skeletal muscle(MRI)
timeFrame: 5 years
measure: Skeletal muscle(electromyogram)
timeFrame: 5 years
measure: Fatty liver(ultrasonography)
timeFrame: 5 years
measure: Thyroid(ultrasonography)
timeFrame: 5 years
measure: Echocardiogram
timeFrame: 5 years
measure: Cardiac CT
timeFrame: 5 years
measure: Cardiac MRI
timeFrame: 5 years
measure: Coronary angiography
timeFrame: 5 years
measure: Electrocardiogram
timeFrame: 5 years
measure: Holter monitoring
timeFrame: 5 years
measure: BMIPP scintigram
timeFrame: 5 years
Other outcomes:
Locations:
city: Stanford
country: United States
facility: Stanford University
state: California
city: New York
country: United States
facility: Columbia University
state: New York
city: Graz
country: Austria
facility: University of Graz
state: Steiermark
city: Beijing
country: China
facility: Peking University First Hospital
state: Beijing
city: Paris
country: France
facility: Pitié-Salpêtrière Hospital
city: Munich
country: Germany
facility: Ludwig-Maximilians University
state: Bayern
city: Rome
country: Italy
facility: Sapienza University of Rome
state: Lazio
city: Rome
country: Italy
facility: A.C.O. San Filippo Neri Hospital
state: Lazio
city: Milano
country: Italy
facility: Catholic University
state: Lombardia
city: Padova
country: Italy
facility: University of Padova
state: Veneto
city: Suita-city
country: Japan
facility: Graduate School of Osaka University
state: Osaka-prefecture
city: Kodaira-city
country: Japan
facility: National Center of Neurology and Psychiatry
state: Tokyo
city: Maastricht
country: Netherlands
facility: Maastricht University
state: Limburg
city: Harefield
country: United Kingdom
facility: Harefield Hospital
state: London
city: Newcastle upon Tyne
country: United Kingdom
facility: New Castle University
state: Tyne And Wear
Study officials:
affiliation: Department of Cardiovascular Medicine, Faculty of Internal Medicine, Graduate School of Osaka University
name: Kenichi Hirano, MD, Ph.D
role: PRINCIPAL_INVESTIGATOR
References: