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Plain Language Summary of the International Collaborative Gaucher Group Gaucher Risk Assessment for Fracture Score in People Living with Gaucher Disease Type 1

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Deegan, Patrick 
Khan, Aneal 
Camelo, José Simon 
Weinreb, Neal 


jats:secjats:titleWhat is Gaucher disease?</jats:title>jats:p Gaucher disease is a rare, inherited genetic condition. People with Gaucher disease have two non-working copies of a gene called GBA1, which contains the instructions for producing an enzyme called beta-glucosidase. Beta-glucosidase breaks down excess fatty substances called glycosphingolipids, that help maintain our cells in good working order. People with Gaucher disease do not make enough beta-glucosidase, so glycosphingolipids build up in their organs, causing complications. There are different types of Gaucher disease but most people in the Western world with Gaucher disease have type 1 (shortened to GD1). Typical complications in GD1 include having a larger spleen and liver, blood problems, and increased risk of bone problems. Bone problems, including fractures, are one of the main causes of pain and disability for people with GD1, and can impact their quality of life. Treatments such as enzyme replacement therapy (also called ERT) can reduce fracture risk but do not prevent them completely. </jats:p></jats:sec>jats:secjats:titleWhat was the aim of this study?</jats:title>jats:p In this study, researchers looked at a new assessment score called the Gaucher Risk Assessment for Fracture (also known as GRAF). The aim was to evaluate how well the GRAF could predict future fracture risk in adults with GD1 who were receiving ERT. </jats:p></jats:sec>jats:secjats:titleWhat were the findings of this study?</jats:title>jats:p The risk of future fractures in adults with GD1 was higher in women, and among people who had a history of bone pain or had their spleens removed as part of their treatment. Risk was also higher if people had a longer time between being diagnosed and starting treatment, and/or were older when they started ERT. The study also found that the GRAF score performed as well as other fracture risk tools used in the general population. These findings support the use of the GRAF score alongside bone density measurements and other risk factor assessments to help doctors and people with GD1 understand the risk of having a fracture after starting ERT. Clinical Trial Registration: NCT00358943 ( ) </jats:p></jats:sec>



32 Biomedical and Clinical Sciences, 3202 Clinical Sciences, Prevention, Neurodegenerative, Women's Health, Neurosciences, Rare Diseases, Musculoskeletal

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Future Rare Diseases

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Informa UK Limited