Sanofi has announced positive results from its study of venglustat in in adults and children over 12 with neurological manifestations of type 3 Gaucher disease (GD3).
Gaucher disease is a rare, inherited lysosomal storage disease caused by deficiency of the glucocerebrosidase enzyme. This leads to molecules known as glycosphingolipids (GSLs) building up, especially in macrophages of the spleen, liver, bone marrow and lungs.
There are three main types of Gaucher disease. In GD3, neurological symptoms such as ataxia and cognitive issues are seen alongside the systemic manifestations that characterise GD1.
Enzyme replacement therapy (ERT) can be used to treat systemic symptoms of GD3, but there are currently no approved treatments for its neurological symptoms.
The LEAP2MONO study showed that venglustat improved both neurological and non-neurological outcomes. Improvements in neurological symptoms, which were the primary endpoint of the study, were measured at week 52. These scores were then compared with those of patients receiving ERT.
Venglustat was found to be well tolerated by participants, and no new safety signals were observed.
Sanofi plans to file global regulatory applications for venglustat in GD3. Results from the LEAP2MONO study will be presented at the 22nd annual WORLDSymposium.
Houman Ashrafian, executive vice president and head of R&D at Sanofi, said: “What excites us most is the potential to address critical unmet medical needs. A daily pill could make a serious difference for Gaucher patients facing neurological challenges.”
Sanofi is also studying a potential indication of venglustat in Fabry disease, which is another rare lysosomal storage disease. The phase 3 PERIDOT study in this indication did not meet its primary endpoint, but a second phase 3 study in Fabry disease, CARAT, is ongoing.