Gaucher disease type I

This Phase 3 trial tests a gene therapy called FLT201 for adults with Gaucher disease type 1. The goal is to see if a single dose can keep blood counts stable so patients can stop their regular enzyme replacement or substrate reduction therapy. The study will enroll 45 people who…

This study tests a new gene therapy called LY-M001 for adults with Gaucher disease type 1, a genetic disorder that causes organ damage and other health problems. The therapy uses a harmless virus to deliver a working copy of the GBA1 gene to liver cells, aiming to restore the mis…

This study follows 30 people with Gaucher disease who are receiving standard medical care to better understand how the condition affects the lungs, bones, and nervous system over time. Researchers will track changes in breathing, bone density, and neurological signs, along with b…

This study is looking at whether advanced heart imaging, especially cardiac MRI, can help identify the cause of cardiomyopathy and predict risks like death or heart failure in a diverse group of patients. The research focuses on adults in the Bronx, including many from Hispanic a…

This study is looking at new blood markers that measure inflammation and oxidative stress in people with Gaucher disease type 1. Researchers want to see if these markers can give more information than the tests currently used. The study involves 34 adults who are stable on their …

This study aims to find early signs of Parkinson's disease in people who carry a change in the GBA1 gene, which puts them at higher risk. Researchers will use simple, non-invasive tests to check for subtle changes in movement, thinking, sleep, and other functions that can appear …

This study creates a registry to collect real-world information on the safety and effectiveness of ambroxol, a common cough medicine, when used at higher doses for Gaucher disease or GBA-related Parkinson disease. Researchers aim to gather data from 300 patients worldwide who are…

This study is building a large online registry of 10,000 adults with cardiomyopathy or myocarditis, plus those with a strong family history. Researchers will track participants over time to see how many experience serious events like heart failure, dangerous heart rhythms, or dea…

This study aims to improve how doctors predict the risk of sudden cardiac death or heart failure in people with inherited heart diseases. Researchers will use artificial intelligence to analyze data from 1,000 participants, including medical history, ECGs, imaging, genetic tests,…

This study follows 1500 people who already have an implantable cardioverter-defibrillator (ICD) to prevent sudden cardiac death. Researchers will track heart function, genetics, and blood markers to find better ways to predict who is at highest risk. The goal is to improve how do…

This study looks at heart tissue samples from 216 adults who already need a biopsy as part of their care. Researchers want to find unique molecular patterns in different heart conditions, including after a heart transplant. The goal is to improve how these diseases are diagnosed …