The US Food and Drug Administration (FDA) has approved the expanded indication of Cerezyme (imiglucerase) for the treatment of non-neuronal symptoms in adult and pediatric patients with Gaucher disease (GD) type 3.
GD refers to a group of inherited metabolic diseases in which harmful amounts of lipids accumulate in various cells and tissues in the body. Signs and symptoms vary widely among affected individuals and may include skeletal disorders, hepatosplenomegaly, liver malfunction, anemia, low platelet counts, bone problems, and neurological problems. It is caused by genetic changes in the GBA gene. GD type 3 is the subacute neurological form of GD characterized by progressive encephalopathy and associated with the systemic manifestations of organomegaly, bone involvement, and cytopenia.
Iimiglucerase is a form of recombinant human beta-glucocerebrosidase enzyme designed to replace the deficient endogenous enzyme in GD. It was originally approved in 1994 for the treatment of adults and pediatric patients 2 years of age and older with GD type 1. Since it is an enzyme replacement therapy, it is not able to cross the blood brain barrier and is only approved to treat non-neuronal symptoms in GD type 1 and 3.
The approval is based on an observational study of data from the International Collaborative Gaucher Group Gaucher Disease Registry in patients with type 1 and type 3 GD. Following two years of treatment with imiglucerase, mean changes from baseline in hemoglobin, platelet count, liver volume, spleen volume, and height Z-score showed improvement.
Among 118 patients with type 3 GD, mean baseline hemoglobin levels were 10 g/dL and mean increase from baseline was 1.8 g/dL. Among 116 patients with type 3 GD, mean baseline platelet count was 149×103 /mm3 and mean increase from baseline was 105×103 /mm3
Imiglucerase carries a Boxed Warning for hypersensitivity reactions including anaphylaxis.
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To learn more about GD and other rare lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/
