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

Neutral Lipid Storage Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02918032
• Other study ID #: TRICVD1315
• Status: Recruiting
• Start date: January 2014
• Est. completion date: March 2025

Study information

• Verified date: November 2023
• Source: Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
• Contact: Kenichi Hirano, MD, Ph.D
• Phone: +81-6-6872-8215
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 120
• Est. completion date: March 2025
• Est. primary completion date: March 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Patients who are diagnosed with NLSD / TGCV

Exclusion Criteria:

• None

Related Conditions & MeSH terms

• Lipid Metabolism, Inborn Errors
• Metabolic Diseases
• Muscular Diseases
• Neutral Lipid Storage Disease

Locations

Country	Name	City	State
Austria	University of Graz	Graz	Steiermark
China	Peking University First Hospital	Beijing	Beijing
France	Pitié-Salpêtrière Hospital	Paris
Germany	Ludwig-Maximilians University	Munich	Bayern
Italy	Catholic University	Milano	Lombardia
Italy	University of Padova	Padova	Veneto
Italy	A.C.O. San Filippo Neri Hospital	Rome	Lazio
Italy	Sapienza University of Rome	Rome	Lazio
Japan	National Center of Neurology and Psychiatry	Kodaira-city	Tokyo
Japan	Graduate School of Osaka University	Suita-city	Osaka-prefecture
Netherlands	Maastricht University	Maastricht	Limburg
United Kingdom	Harefield Hospital	Harefield	London
United Kingdom	New Castle University	Newcastle upon Tyne	Tyne And Wear
United States	Columbia University	New York	New York
United States	Stanford University	Stanford	California

Sponsors (1)

Lead Sponsor	Collaborator
Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan

Countries where clinical trial is conducted

United States,  Austria,  China,  France,  Germany,  Italy,  Japan,  Netherlands,  United Kingdom, 

Outcome

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