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 studiesThis Plain Language Summary of Publication article (PLSP) from Future Rare Diseases looks at the rare genetic condition, Gaucher disease type 3 (GD3). GD3 can affect children and cause brain and spinal cord symptoms such as involuntary eye movements, seizures, confusion and memory loss, and over-rounding of the upper back. The study described in this PLSP looked at long-term changes in the blood, spleen, liver, and growth in children and teenagers living with GD3, and how long they survived once they had started a type of treatment called imiglucerase.

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This PLSP is based on an original article called ‘Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry’ and was published in Molecular Genetics and Metabolism.

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