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Current and Emerging Pharmacotherapy for Gaucher Disease

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Abstract

Gaucher disease (GD) is the most common inherited lysosomal storage disorder. It is a multi-system disease secondary a deficient activity of glucocerebrosidase-β-acid by variants in the GBA gene. The wide variability in the severity of clinical manifestations causes it to be diagnosed at any age. Only about 30% of patients are identified to have it in their childhood. Leaving aside the most serious forms of the diseases that are observed in the first weeks of life, most of the manifestations focus on the increase of visceral size, cytopenias, growth retardation, and bone pain crisis. The introduction of enzymatic replacement therapy (ERT) 28 years ago was a revolution and a change in the treatment landscape of GD, the eradication of splenectomy, and the reduction of bone complications when ERT begins in childhood has been definitive for the control of the disease and improvement of the quality of life. The treatment is effective in most patients without neurological involvement and with few adverse effects; however, the need for an intravenous administration every 2 weeks, indefinitely, not having the property to cure the disease has motivated the search for more alternatives that are comfortable, effective, and definitive.

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Correspondence to Pilar Giraldo.

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The author has received research grants and speaker honorarium from Company Takeda, Sanofi-Genzyme, Pfizer. All fees are donated to the FEETEG for research support.

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Giraldo, P. Current and Emerging Pharmacotherapy for Gaucher Disease. Clinic Rev Bone Miner Metab 17, 142–151 (2019). https://doi.org/10.1007/s12018-019-09267-x

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