Neutral Lipid Storage DiseaseNCT02918032
International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
An observational study of Neutral Lipid Storage Disease, run by Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan at 15 sites in 9 countries.
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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Neutral Lipid Storage Disease
- How many people
- 120 participants
- Where
- 15 sitesin 9 countries
- Study dates
- Jan 2014to 31 Mar 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients who are diagnosed with NLSD /TGCV (including adults only)
Who may be able to join
- Patients who are diagnosed with NLSD / TGCV
Who cannot join
- None
Trial locations and contacts
15 sites in 9 countries. Contact the study team or a site near you to ask about taking part.
Kenichi Hirano, MD, Ph.D contact
15 sites in 9 countries
Italy4 sites, 4 recruiting
- Recruiting
Catholic University
Milan, Lombardy, 20123
Daniela Tavian, MD, +39-2-72341
- Recruiting
University of Padova
Padova, Veneto, 35122
Corrado Angelini, +39-49-827-5111
- Recruiting
Sapienza University of Rome
Rome, Lazio, 00185
Marcello Arca, +39-6-49911
- Recruiting
A.C.O. San Filippo Neri Hospital
Rome, Lazio, 00193
Elena M Pennisi, MD, Ph.D., +39-6-33061
United States2 sites, 2 recruiting
- Recruiting
Columbia University
New York, New York, 10027
Salvatore DiMauro, +1-212-854-1754
- Recruiting
Stanford University
Stanford, California, 94305-2004
Sean M Wu, +1-650-723-2300
Japan2 sites, 2 recruiting
- Recruiting
National Center of Neurology and Psychiatry
Kodaira, Tokyo, 187-8551
Ichizo Nishino, +81-42-341-2711
- Recruiting
Graduate School of Osaka University
Suita, Osaka, 565-0874
Kenichi Hirano, MD, Ph.D., +81-6-6872-8215
United Kingdom2 sites, 2 recruiting
- Recruiting
Harefield Hospital
Harefield, London, UB9 6JH
Nick Banner, +44-1895-823-737
- Recruiting
New Castle University
Newcastle upon Tyne, Tyne and Wear, NE1 7RU
Rita Horvath, +44-191-208-6000
Austria1 site, 1 recruiting
- Recruiting
University of Graz
Graz, Styria, 8010
Rudolf Zechner, +43-316-380-0
China1 site, 1 recruiting
- Recruiting
Peking University First Hospital
Beijing, Beijing Municipality, 100034
Yun Yuan, +86-66551122
France1 site, 1 recruiting
- Recruiting
Pitié-Salpêtrière Hospital
Paris, Paris, 75013
Pascal Laforêt, +33-1-42-16-00-00
Karim Wahbi, +33-1-42-16-00-00
Germany1 site, 1 recruiting
- Recruiting
Ludwig-Maximilians University
Munich, Bavaria, 80539
Peter Reilich, +49-89-2180-0
Netherlands1 site, 1 recruiting
- Recruiting
Maastricht University
Maastricht, Limburg, 6211
Matthijs Hesselink, +31-43-388-2222
About this study
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.
Read the 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).
- 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)
- Medical subject headings
- Chanarin-Dorfman Syndrome, Neutral Lipid Storage Disease with Myopathy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| NLSD / TGCV | Patients who are diagnosed with NLSD / TGCV |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 5 years
Secondary outcomes (40)
Serum CK(Creatine Kinase) level
Evaluating the serum CK level by measuring
Measured: 5 years
Serum BNP(B-type Natriuretic Peptide) level
Evaluating serum BNP level by measuring
Measured: 5 years
Serum AST(Aspartate transaminase) level
Evaluating serum AST level by measuring
Measured: 5 years
Serum ALT(Alanine transaminase) level
Evaluating serum ALT level by measuring
Measured: 5 years
Serum TG level
Evaluating serum TG level by measuring
Measured: 5 years
Plasma glucose level
Evaluating plasma glucose level by measuring
Measured: 5 years
HbA1c
Evaluating HbA1c by measuring
Measured: 5 years
TSH(thyroid-stimulating hormone)
Evaluating TSH by measuring
Measured: 5 years
Free T4
Evaluating Free T4 by measuring
Measured: 5 years
Ichthyosis
Presence / Absence of Ichthyosis within 5 years
Measured: 5 years
Jordans' anomaly
Presence / Absence of Jordans' anomaly within 5 years
Measured: 5 years
Neurosensory disorders
Presence / Absence of neurosensory disorders
Measured: 5 years
Mental retardation
Presence / Absence of mental retardation
Measured: 5 years
Hearing loss
Presence / Absence of hearing loss
Measured: 5 years
Skeletal muscle (Musculoskeletal symptoms)
Presence / Absence of musculoskeletal symptoms
Measured: 5 years
Skeletal muscle (Muscle weakness)
Presence / Absence of muscle weakness
Measured: 5 years
Barthel Index
Evaluating activities of daily living by Barthel Index
Measured: 5 years
Clinical findings of Heart
Presence / Absence of cardiac symptoms
Measured: 5 years
Clinical findings of Liver
Presence / Absence of hepatomegaly
Measured: 5 years
Clinical findings of Pancreas
Presence / Absence of diabetes mellitus
Measured: 5 years
Manual muscle test
Evaluating muscles by Manual muscle test
Measured: 5 years
Muscle biopsy
To evaluate lipid involvement and deposition
Measured: 5 years
Myocardial biopsy
To evaluate lipid involvement and deposition
Measured: 5 years
Skin biopsy
To evaluate lipid involvement and deposition
Measured: 5 years
Respiratory function test
Evaluating muscles by Respiratory function test
Measured: 5 years
6-minute walk distance
Evaluating heart function by 6-minute ｗalk distance
Measured: 5 years
Treadmill endurance time
Evaluating heart function by treadmill endurance time
Measured: 5 years
Cardiopulmonary exercise test
Evaluating heart function by cardiopulmonary exercise test
Measured: 5 years
Skeletal muscle(CT)
Evaluating skeletal muscle using CT
Measured: 5 years
Skeletal muscle(MRI)
Evaluating skeletal muscle using MRI
Measured: 5 years
Skeletal muscle(electromyogram)
Evaluating skeletal muscle using electromyogram
Measured: 5 years
Fatty liver(ultrasonography)
Evaluating fatty liver by ultrasonography
Measured: 5 years
Thyroid(ultrasonography)
Evaluating thyroid by ultrasonography
Measured: 5 years
Echocardiogram
Measuring echocardiogram
Measured: 5 years
Cardiac CT
Measuring cardiac CT
Measured: 5 years
Cardiac MRI
Measuring cardiac MRI
Measured: 5 years
Coronary angiography
Measuring coronary angiography
Measured: 5 years
Electrocardiogram
Measuring electrocardiogram
Measured: 5 years
Holter monitoring
Measuring holter monitoring
Measured: 5 years
BMIPP scintigram
Evaluating myocardial lipolysis
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Sep 2016 (estimated)
- Study startJan 2014
- Primary completion31 Mar 2028 (estimated)
- Study completion31 Mar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neutral Lipid Storage DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 120 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Kenichi Hirano, MD, Ph.D, Principal investigator, Department of Cardiovascular Medicine, Faculty of Internal Medicine, Graduate School of Osaka University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02918032
- Sponsor's protocol ID
- TRICVD1315
- Status last verified
- Feb 2026
- First submitted
- 4 Aug 2016
- Last updated
- 5 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
- ClinicalTrials.gov ID
- NCT02918032
- Acronym / sponsor ID
- TRICVD1315
- 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)
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 120 participants (estimated)
- Lead sponsor
- Translational Research Center for Medical Innovation, Kobe, Hyogo, JapanUniversity, hospital or other
- Study start
- Jan 2014
- Primary completion
- 31 Mar 2028 (estimated)
- Study completion
- 31 Mar 2028 (estimated)
- First posted
- 28 Sep 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| NLSD / TGCV | – | –Patients who are diagnosed with NLSD / TGCV |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients who are diagnosed with NLSD /TGCV (including adults only)
Key inclusion criteria (1 listed)
- Patients who are diagnosed with NLSD / TGCV
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Period from the diagnosis of NLSD / TGCV to death from any cause
Time frame: 5 years
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.
40 secondary outcomes
Serum CK(Creatine Kinase) level
Time frame: 5 years
Serum BNP(B-type Natriuretic Peptide) level
Time frame: 5 years
Serum AST(Aspartate transaminase) level
Time frame: 5 years
Serum ALT(Alanine transaminase) level
Time frame: 5 years
Serum TG level
Time frame: 5 years
Plasma glucose level
Time frame: 5 years
HbA1c
Time frame: 5 years
TSH(thyroid-stimulating hormone)
Time frame: 5 years
Free T4
Time frame: 5 years
Ichthyosis
Time frame: 5 years
Jordans' anomaly
Time frame: 5 years
Neurosensory disorders
Time frame: 5 years
Mental retardation
Time frame: 5 years
Hearing loss
Time frame: 5 years
Skeletal muscle (Musculoskeletal symptoms)
Time frame: 5 years
Skeletal muscle (Muscle weakness)
Time frame: 5 years
Barthel Index
Time frame: 5 years
Clinical findings of Heart
Time frame: 5 years
Clinical findings of Liver
Time frame: 5 years
Clinical findings of Pancreas
Time frame: 5 years
Manual muscle test
Time frame: 5 years
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
6-minute walk distance
Time frame: 5 years
Treadmill endurance time
Time frame: 5 years
Cardiopulmonary exercise test
Time frame: 5 years
Skeletal muscle(CT)
Time frame: 5 years
Skeletal muscle(MRI)
Time frame: 5 years
Skeletal muscle(electromyogram)
Time frame: 5 years
Fatty liver(ultrasonography)
Time frame: 5 years
Thyroid(ultrasonography)
Time frame: 5 years
Echocardiogram
Time frame: 5 years
Cardiac CT
Time frame: 5 years
Cardiac MRI
Time frame: 5 years
Coronary angiography
Time frame: 5 years
Electrocardiogram
Time frame: 5 years
Holter monitoring
Time frame: 5 years
BMIPP scintigram
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Feb 2026.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Kenichi Hirano, MD, Ph.D contact
Kenichi Hirano, MD, Ph.D principal investigator
Department of Cardiovascular Medicine, Faculty of Internal Medicine, Graduate School of Osaka University
15 sites in 9 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neutral Lipid Storage Disease, run by Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan at 15 sites in 9 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 15 sites in Italy, United States, Japan, United Kingdom, Austria and 4 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Kenichi Hirano, MD, Ph.D (+81-6-6872-8215), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Period from the diagnosis of NLSD / TGCV to death from any cause (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Feb 2026.