PRO4 IMPACT OF ENZYME REPLACEMENT THERAPY ON THE RISK OF DEVELOPING GAUCHER DISEASE-RELATED COMPLICATIONS

Abstract

Enzyme replacement therapy (ERT) prevents or delays the onset of clinical manifestations of type 1 Gaucher disease (GD). This study assessed the impact of ERT initiation timing on the risk of developing new GD-related complications. Patients with GD and ≥1 ERT prescription, with available data for ≥3 years prior and ≥1 year after ERT initiation were selected from the Maccabi Healthcare Services database, an Israeli health insurer. Two longitudinal models were constructed to evaluate the association between ERT use and the risk of new GD-related complications, adjusting for patient age and number of prior complications as time-varying covariates. Model 1 evaluated ERT duration and Model 2 evaluated current use of ERT. Using the model results, the risk of a new complication and the cumulative number of complications were simulated over time for patients initiating ERT at 10, 20, and 40 years of age. 64 patients (40.6% male) met inclusion criteria and were included in the analysis. Mean (range) age at diagnosis was 27.4 (0.1–85.7) years, and age at ERT initiation was 32.3 (2.0–86.7) years. Patients experienced an average of 2 GD-related complications prior to ERT initiation versus 0.25 in the 5 years following ERT initiation. The most common complications were thrombocytopenia, splenomegaly, and anemia. A significantly decreased risk of developing a new complication was associated with both longer duration of ERT (odds ratio [OR]: 0.75, 95% confidence interval [CI]: 0.63–0.90) and current use of ERT (OR: 0.37, 95% CI: 0.21–0.67). After 4 years of treatment, patients who initiated ERT at an earlier age had a 12–33% lower risk of developing a new complication and an 8–19% reduction in the total number of cumulative complications. Earlier treatment with ERT was associated with a decreased risk of developing a new GD-related complication.