Introduction: Cerezyme® (imiglucerase, Genzyme Corporation) is the current standard treatment for type 1 Gaucher disease (GD1). Most patients are infused every 2 weeks. A less frequent infusion schedule at the same total 4-week dose might be equally effective and more convenient.

Objective: To compare the safety and efficacy of two dosing frequencies of Cerezyme for patients with GD1.

Methods: A phase IV, multicenter, randomized 24-month trial enrolled 95 clinically stable adult GD1 patients (mean age 47 years; range 18–82 years) who had received Cerezyme ≥2 years. Patients were randomized to continue their total 4 week dose as 1 infusion every 2 weeks (Q2) or 1 infusion every 4 weeks (Q4). The primary analysis used a composite endpoint of relative change in hemoglobin level, platelet count, liver and spleen volumes, or progression of bone disease and bone crisis. A post-hoc analysis was performed based upon maintenance of therapeutic goals (

Pastores et al.
Sem Hematol
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Results: Mean 4-week doses (U/kg) of Cerezyme were 70.4±24.9 for Q2 (n=33) and 69.7±21.3 for Q4 (n=62). The primary analysis endpoint was maintained in 80.8% of Q2 and 63.2% of Q4 patients at 24 months. Per the post-hoc analysis, 100% of Q2 and 88.5% of Q4 patients maintained therapeutic goals at 24 months. No Cerezyme-related serious adverse events were reported.

Conclusions: Infusing a total 4-week dose of imiglucerase every 4 weeks appears to be safe and well-tolerated in the majority of patients in this cohort and may be considered for some stable adult GD1 patients who have achieved therapeutic goals on Cerezyme therapy. The dosing frequency of Cerezyme, as with dose itself, must be individualized based upon physician judgment and patient needs as determined by regular and comprehensive monitoring. Long term follow-up of patients on a Q4 dosing regimen is necessary to determine other clinical outcomes, such as bone mineralization and marrow infiltration.

Disclosures: Kishnani:Genzyme Corporation: Consultancy, Honoraria, Membership on an entity’s Board of Directors or advisory committees, Research Funding.

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