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Gaucher disease is an inherited metabolic disease characterized by β-glucocerebrosidase deficiency and commonly treated with enzyme replacement therapy (ERT). The efficacy of ERT with velaglucerase alfa was assessed based on...

This retrospective, exploratory analysis of data from phase 3 clinical trials of velaglucerase alfa in patients with type 1 GD evaluated the potential of lyso-Gb1 as a specific and sensitive biomarker for GD.

Miglustat Dipharma is indicated for the oral treatment of adult patients with mild to moderate type 1 Gaucher disease. Miglustat Dipharma may be used only in the treatment of patients for whom enzyme replacement therapy is unsuitable (see sections 4.4 and 5.1). Miglustat Dipharma is indicated for the treatment of progressive neurological manifestations in adult patients and paediatric patients with Niemann-Pick type C disease (see sections 4.4, and 5.1).

In the phase 3 trial of eliglustat in patients with Gaucher disease type 1 already stabilized with enzyme therapy (ENCORE), at one year, eliglustat was non-inferior to imiglucerase enzyme therapy in maintaining stable platelet counts ...

Sanofi and its subsidiary Genzyme, announced the publication of results from the ENGAGE registration study evaluating Cerdelga (eliglustat) in treatment-naïve...

VPRIV is indicated for long-term enzyme replacement therapy (ERT) in patients with type 1 Gaucher disease.

Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the α-galactosidase A gene mutations. Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta.

Purpose: In Gaucher disease, diminished activity of the lysosomal enzyme, acid β-glucosidase, leads to accumulation of glucosylceramides and related substrates, primarily in the spleen, liver, and bone marrow.

Following the treatment of the first Gaucher disease patient with enzyme replacement therapy (ERT), it was clear that ERT had the potential to be transformative with dramatic improvements...