GAUCHER DISEASE

This early-stage study tests a single intravenous dose of a gene therapy called LY3884961 in 15 adults with Gaucher disease type 1. The goal is to see if it is safe and can reduce or replace the need for ongoing enzyme replacement or substrate reduction therapy. Participants must…

This study is a long-term registry that follows over 1,200 people with Gaucher disease worldwide. It collects real-world data on how the disease progresses and how different treatments, including velaglucerase alfa, work over time. No new drugs are being tested; instead, particip…

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 a worldwide registry that collects health information from people with Gaucher disease over many years. 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 progresses, i…

This observational study looks at tiny particles called extracellular vesicles in people with Gaucher disease, carriers, and healthy volunteers. Researchers want to see if these particles differ between groups and if they can help explain brain inflammation linked to the disease.…

This study aims to find out how many people with an enlarged spleen or certain blood disorders (like multiple myeloma) also have Gaucher disease or acid sphingomyelinase deficiency (ASMD). Researchers will use a simple blood spot test to check for these rare conditions. The goal …

This study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

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. It also looks at how well current treatments like enzyme replacement therapy work over time. No new treatment…