ABSTRACT
The introduction of enzyme replacement therapy (ERT) has revolutionized the management of patients with Gaucher disease (GD). To improve the patients' quality of life, we have studied and published the safety and efficacy of a rapid 10-min infusion of high-dose velaglucerase-alfa, instead of one hour as labeled, in 15 previously treated patients. We herein present the 18-month results of the investigator-initiated research in naïve patients with GD (defined by at least one year off ERT or SRT). All patients received bi-weekly infusions of 60 unit/kgBW velaglucerase-alfa;the infusion rate was gradually reduced from 60 to 10 min over six infusions in the hospital setup, followed by home infusions. Each infusion was followed for safety, and efficacy parameters were assessed every 3 months. We enrolled 15 patients (77% males) at a median age (range) of 40 (10–72) years. Thirteen patients were never treated, and two patients were off-ERT for over one year. Ten-minute rapid infusions were well tolerated with no reported related severe or non-severe adverse events (AEs). Two patients reported a non-related SAE and another a non-related AE. Two patients dropped out due to unwillingness to attend follow-up visits during the COVID-19 pandemic. In addition, in 3 patients the infusion rate was increased back to 30 or 60 min due to different causes (2 due to sub-optimal response and one due to AE). All 13 remaining patients reached the 18-month time-point. The platelet counts increased by a median (range) of 75.1% [15.6%–206.9%] and the lyso-GB1 levels decreased by 60.15% [25.7%–85.6%]. Shortening the infusion time has shown to be safe and effective in both previously treated (Zimran et al., AJH2018) and in treatment-naïve patients (this report) and could therefore improve the quality-of-life of patients with GD who have a long-life commitment to this therapy.