ERT

Gaucher disease is a rare genetic condition. There are three types of Gaucher disease: type 1, type 2, and type 3 (GD3). Symptoms of GD3 include problems with the brain and spinal cord, bones, blood, enlarged liver and spleen, and slow growth. Symptoms have a great impact on the quality of life of people with GD3 and are known to cause loss of life in childhood. In Gaucher disease, people have two non-working copies of a gene called GBA, which tells the body how to make an enzyme called beta-glucosidase (which breaks down excess fats called sphingolipids). In Gaucher disease, people do not make enough beta-glucosidase enzyme, meaning sphingolipids build up inside cells, affecting many organs and systems of the body.Enzyme replacement therapy (ERT) is a treatment for Gaucher disease. Previous studies looking at ERT showed that treatment can greatly improve most symptoms and quality of life in people with Gaucher disease. How ERT may help people with GD3 is only available in small studies

14th Feb 2024

Long-term benefits of enzyme replacement therapy in children and teenagers with Gaucher disease type 3- a plain language summary

25th Nov 2022

Plain language summary of a study looking at the age at diagnosis and time to start of treatment in individuals with mucopolysaccharidosis type I (MPS I)