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 early-phase trial tests a single intravenous dose of LY-M001 gene therapy in 9 children (ages 6 to 17) with type 1 Gaucher disease. The goal is to see if it is safe and can improve key symptoms like liver size and blood markers. Researchers will monitor participants for side…

This study tests a new gene therapy called LY3884961 in 32 people with moderate to severe Parkinson's disease who have a specific genetic change (GBA1 mutation). The treatment is given as a single injection into the fluid around the brain and spinal cord. The main goal is to chec…

This phase 3 trial tests venglustat, a daily oral drug, against the standard IV treatment Cerezyme in 43 people with Gaucher disease type 3. Participants must have been on enzyme replacement therapy for at least 3 years. The goal is to see if venglustat can stabilize or improve n…

This phase 2 trial tests an oral drug called venglustat, given alongside the standard enzyme therapy Cerezyme, in adults with Gaucher disease type 3 (a rare genetic disorder affecting the body and brain). The study has four parts: first, it checks spinal fluid biomarkers to disti…

This early-phase trial is testing a single-dose gene therapy called LY3884961 in 7 infants with Type 2 Gaucher disease, a severe and rapidly fatal genetic disorder. The therapy is injected into the fluid around the brain and spinal cord to deliver a working copy of the faulty gen…

This study follows 75 people with Gaucher disease type 1 who previously received FLT201 gene therapy. Researchers will monitor them for 5 years to see if the treatment remains safe and if its effects last. The goal is to understand whether a single dose can provide long-term dise…

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

This study aims to identify genetic, biochemical, and clinical factors linked to disease severity in people with Gaucher disease and other lysosomal storage disorders. Researchers will evaluate up to 1,000 participants, including patients, carriers, and healthy controls, to bette…

This early-stage study tests the safety and how the body handles a new oral drug, YH35995, in 86 healthy adult men. Participants receive either the drug or a placebo, and researchers monitor side effects and drug levels in the blood. The goal is to gather safety information, not …

This study looks at whether people with Fabry, Gaucher, or Hunter disease are more likely to continue their IV treatment when it's given at home versus at a hospital. Researchers will review existing data from 222 patients in Mexico. No new treatments are given; the goal is to un…