Treatment with Cerdelga (eliglustat), a substrate reduction therapy approved in the U.S. for adults with type 1 Gaucher disease, was safe and showed therapeutic potential in children with the condition, a real-world study finds. “This case series highlights real-world experience with [Cerdelga] in pediatric [Gaucher type 1] patients,…
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An enlarged spleen or low platelets counts — or both — in a person with difficult-to-diagnose complaints may be a sign of type 1 Gaucher disease (GD1), a study suggests. Doctor should assess the activity of the beta-glucocerebrosidase enzyme — the protein defective in Gaucher disease — in dried…
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…
