GAUCHER DISEASE

This early-stage trial tests a single-dose gene therapy (LY3884961) for adults with Gaucher disease type 1. The goal is to see if it is safe and can reduce or stop the need for regular enzyme replacement therapy. About 15 participants will receive one intravenous dose and be foll…

This study is a long-term registry that collects health information from people with Gaucher disease, regardless of their treatment. It does not test any new drug or procedure. The goal is to better understand the disease and track the safety and effectiveness of treatments over …

This study is creating a large database to collect information about people with rare diseases like amyloidosis, sarcoidosis, and many others. Researchers will track patients' health, treatments, and outcomes over time. The goal is to better understand these conditions and improv…

This study follows 1,500 people with rare genetic brain disorders like MLD, Krabbe disease, and Batten disease. Researchers track thinking, movement, and language skills over time, and collect blood and MRI scans. The goal is to learn how these diseases progress, not to test a tr…

This study looks at tiny particles released by cells, called extracellular vesicles, in people with Gaucher disease, carriers, and healthy volunteers. Researchers want to see if these particles are different in size, number, and content, and if they can help explain brain inflamm…

This study creates a registry for up to 300 people with Gaucher disease or GBA-related Parkinson's who are already taking ambroxol (a common cough medicine) off-label. Researchers will collect real-world safety and effectiveness data from patients, parents, and doctors. No new tr…

This study aims to find out how often Gaucher disease and acid sphingomyelinase deficiency (ASMD) occur in people with enlarged spleens or certain blood disorders like multiple myeloma. Researchers will use a simple blood test to check for these rare genetic conditions. The goal …

This study is a large, ongoing registry that collects health information from people with Gaucher disease around the world. It does not test any new treatments; instead, it observes patients as they receive their usual care. The goal is to better understand how the disease progre…

This study follows 200 people with Gaucher disease over many years to learn how the condition affects the body long-term, including the nervous system, liver, and spleen. Researchers will also review treatment records to see how well enzyme replacement and other therapies work an…