Actively Recruiting
International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
Led by Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan · Updated on 2026-02-05
120
Participants Needed
15
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying Neutral Lipid Storage Disease (NLSD) and Triglyceride Deposit Cardiomyovasculopathy (TGCV), which are rare diseases with limited information about their symptoms and progression. This study aims to gather worldwide data on when these diseases start, background information about affected patients, and their natural disease course. The study also explores factors that may predict disease outcomes and assesses how well specific treatments work. The study involves creating an international registry to collect information from patients diagnosed with NLSD or TGCV. This registry includes patients with Jordans' anomaly in certain white blood cells, allowing inclusion of various genetic types of NLSD beyond common gene mutations. The study collects both past medical records and ongoing data from patients. Participants will have their health monitored through various tests and evaluations over up to five years. These include blood tests, muscle and heart assessments, biopsies, imaging scans, exercise tests, and surveys of physical function. The main measure is the time from diagnosis to death from any cause. Secondary measures track many health aspects such as muscle strength, heart and liver function, and neurological symptoms. This long-term observation helps researchers understand the disease and treatment effects better.
CONDITIONS
Brief Title
International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients who are diagnosed with NLSD / TGCV
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 5 years
Participants diagnosed with NLSD / TGCV are observed over time to monitor clinical manifestations and disease progression.
Regular follow-up visits over the study period
Trial Site Locations
Total: 15 locations
1
Stanford University
Stanford, California, United States, 94305-2004
Actively Recruiting
2
Columbia University
New York, New York, United States, 10027
Actively Recruiting
3
University of Graz
Graz, Styria, Austria, 8010
Actively Recruiting
4
Peking University First Hospital
Beijing, Beijing Municipality, China, 100034
Actively Recruiting
5
Pitié-Salpêtrière Hospital
Paris, Paris, France, 75013
Actively Recruiting
6
Ludwig-Maximilians University
Munich, Bavaria, Germany, 80539
Actively Recruiting
7
Sapienza University of Rome
Rome, Lazio, Italy, 00185
Actively Recruiting
8
A.C.O. San Filippo Neri Hospital
Rome, Lazio, Italy, 00193
Actively Recruiting
9
Catholic University
Milan, Lombardy, Italy, 20123
Actively Recruiting
10
University of Padova
Padova, Veneto, Italy, 35122
Actively Recruiting
11
Graduate School of Osaka University
Suita, Osaka, Japan, 565-0874
Actively Recruiting
12
National Center of Neurology and Psychiatry
Kodaira, Tokyo, Japan, 187-8551
Actively Recruiting
13
Maastricht University
Maastricht, Limburg, Netherlands, 6211
Actively Recruiting
14
Harefield Hospital
Harefield, London, United Kingdom, UB9 6JH
Actively Recruiting
15
New Castle University
Newcastle upon Tyne, Tyne and Wear, United Kingdom, NE1 7RU
Actively Recruiting
Research Team
K
Kenichi Hirano, MD, Ph.D
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
Frequently Asked Questions
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