GAUCHER DISEASE

This early-stage study is testing a single intravenous dose of an experimental gene therapy called LY3884961 in adults with Gaucher disease. The main goal is to see if the treatment is safe and tolerable, while also checking if it can improve key disease measures like spleen size…

This study aims to find out how often two rare genetic diseases, Gaucher disease and ASMD, occur in people with an enlarged spleen or certain blood cell cancers. Researchers will test blood samples from 210 adult patients who have these conditions but no clear cause. The goal is …

This is a global registry that collects health information from people with Gaucher disease to better understand how the disease progresses and how treatments work over time. The study involves 12,000 participants worldwide who are followed through their regular medical care, wit…

This study is creating a long-term registry to track people with Gaucher disease, a rare genetic condition. It follows patients over time to understand how treatments work in real life and learn about the disease's natural progression. No experimental treatments are given—patient…

This study aims to understand the long-term course of Gaucher disease by reviewing medical records of 200 patients over many years. Researchers will track how the disease affects different body systems and evaluate the long-term effectiveness and safety of standard treatments. Th…

This study aims to understand how over 25 rare genetic disorders that damage the brain progress over time. Researchers will follow 1,500 participants, assessing their development and brain health regularly for years. The goal is to gather detailed information to help future resea…

This study aims to create a single, large registry to collect information on many different rare diseases. It will enroll about 380 patients already being treated at the Hospital Italiano de Buenos Aires who have one of the listed rare conditions. The goal is to gather data to be…