Global Registry Study of Neutral Lipid Storage Disease and Triglyceride Deposit Cardiomyovasculopathy Tracking Patient History and Treatment Outcomes

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.

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