Gaucher disease is an inherited lysosomal storage disorder, characterized by deficient activity of
glucocerebrosidase leading to storage of
glucocerebroside in tissue macrophages. Type I disease, the most prevalent form, lacks central nervous system involvement but presents primarily with variable degrees of hepatosplenomegaly,
cytopenia, and
bone disease. Intravenous
enzyme replacement therapy can reverse these manifestations. In addition to the two
enzymes currently authorized for use, the newest
enzyme,
taliglucerase alfa, is at the late stages of clinical development.
Taliglucerase alfa is a unique product, as it is the first plant cell-based recombinant
enzyme therapy. This review considers the existing evidence for therapeutic efficacy of
taliglucerase alfa in the treatment of the non-neuronopathic manifestations of
Gaucher disease. Clinical studies encompass one phase I trial in healthy volunteers, one phase III trial, and preliminary results from both an extension study and a switch study. In the 9-month, randomized, double-blind phase III trial, treatment-naïve patients with type I
Gaucher disease were treated with either 30 or 60 U/kg every 2 weeks. Dose-dependent improvements were achieved after 6 and 9 months of
therapy, with reductions in spleen and liver volumes and improvements in
hemoglobin levels. Platelet counts improved initially only in the higher-dose group, but preliminary results from the extension study also show significant increases in the lower-dose group. Bone marrow involvement, as assessed by magnetic resonance imaging, improved in almost all patients.
Taliglucerase alfa has shown a good safety profile, with few patients experiencing
hypersensitivity reactions and developing
antibodies. An additional
enzyme replacement therapy for
Gaucher disease would enable the treatment of more patients and would provide backup for unexpected production problems. Furthermore, it is expected that this new treatment would reduce the costs of
therapy.
Taliglucerase alfa is a valuable new treatment modality for the non-neuronopathic manifestations of
Gaucher disease.