GAUCHER DISEASE

This study tests a one-time 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 current enzyme replacement or substrate reduction therapy. About 15 participants will receive a single intravenous dos…

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 aims to find out how many people with certain blood disorders (monoclonal gammopathies or multiple myeloma) also have undiagnosed Gaucher disease or acid sphingomyelinase deficiency (ASMD). Researchers will test 210 adults who have an enlarged spleen or low platelets u…

This study creates a registry to collect safety and effectiveness information on ambroxol, a common cough medicine, when used off-label at higher doses for Gaucher disease or GBA-related Parkinson's. Researchers aim to gather data from 300 patients worldwide to help doctors and f…

This study is a long-term registry that collects information from people with Gaucher disease of any age, no matter what treatment they are on or if they are not treated. The goal is to track safety and effectiveness of treatments, especially velaglucerase alfa, and better unders…

This study follows 1,500 people with rare genetic brain diseases to learn how these conditions progress. Researchers will track thinking, movement, and daily living skills over time. The goal is to better understand the diseases and how treatments might affect them.

This study looks at tiny particles called extracellular vesicles in the blood of people with Gaucher disease, carriers, and healthy volunteers. Researchers want to see if these particles are different in size, amount, and content, which could help explain brain inflammation linke…

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

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…