Long-term analysis of velaglucerase alfa-treated patients with Gaucher disease who entered the Gaucher Outcomes Survey (GOS) real-life registry

Gaucher disease (GD) is a rare, autosomal recessive condition, characterized by hepatosplenomegaly, thrombocytopenia and anemia. Velaglucerase alfa resulted in improvements in these parameters in clinical studies, but there are limited data on long-term efficacy and safety in real-life clinical practice. The Gaucher Outcome Survey (GOS), an international registry for patients with confirmed GD regardless of type or treatment status, collects data during patients’ routine care, and provides an opportunity for long-term analysis of patients receiving velaglucerase alfa. This evaluation included 197 treatment naive patients who initiated velaglucerase alfa upon enrollment into GOS and continued velaglucerase alfa treatment for up to 8 years (mean 59.8 months). Hemoglobin levels, platelet counts, liver and spleen volume, and chitotriosidase levels were assessed. At baseline (start of velaglucerase alfa), 77.2% patients were aged ≥18 years, 58.9% were female, 52.8% had a known N370S-containing genotype, and 87.8% had an intact spleen (including partial splenectomy). Patients showed stabilization or improvement in all measured clinical parameters during the study period. After 4 years of velaglucerase alfa treatment, mean (SD) hemoglobin levels increased by 7.5 g/L from baseline to 136.4 (12.8) g/L (n=19 patients with available data) and mean (SD) platelet counts increased by 54.6 x109/L to 166.4 (57.9) x109/L (n=19). Liver size remained stable at 1.2 MN (n=4) over 4 years, while spleen size decreased from 7.5 MN to 6.4 MN (n=4), a mean reduction of 1.2 MN. Mean (SD) chitotriosidase values reduced by 4302.7 nmol/mL/h to 1019.1 (1907.45) nmol/mL/h at year 4 (n=14). Sixty-one (31.0%) patients experienced 153 adverse events during velaglucerase alfa treatment 16 AEs in 10 patients were considered related to velaglucerase, but none were serious. This analysis suggests that improvements in clinical parameters achieved with velaglucerase alfa can be maintained long-term in real-life clinical practice. This study and writing support were funded by Shire.