Enzyme Replacement Therapy in Gaucher Disease: Beneficial Effects on Bone Crisis and Bone Pain.

Abstract Bone crises and bone pain are major causes of morbidity in type 1 Gaucher disease (GD), patients. Enzyme replacement therapy (ERT) for GD has proven to be of clinical benefit in resolving hematologic abnormalities and organomegaly. However, the clinical effects of ERT on bone crisis and bone pain have not been fully evaluated. This paper reports the results of the first retrospective data analysis undertaken to examine the association between ERT in this population and the reduction of bone crisis and bone pain. Data were analyzed from the International Collaborative Gaucher Group Registry, established in 1991 as a longitudinal database to track the clinical outcomes of patients with GD, irrespective of treatment status. Inclusion criteria were GD type 1, treatment by ERT, and data available on the occurrence of bone crises and/or bone pain for 1 year prior to and for each of the 3 years following the initiation of ERT. A bone crisis was defined as pain with acute onset requiring immobilization, narcotics for pain, and periosteal elevation, leucocytosis, fever or debilitation. For bone crises and bone pain, 219 and 244 patients, respectively, met the criteria. TYPE 1 GAUCHER DISEASE PATIENTS WITH BONE CRISES AND BONE PAIN 1 YEAR PRE- AND 1, 2 AND 3 YEARS POST-ERT The numbers of patients with reports of bone crises and bone pain in each of the time periods are presented in the table. Bone crisis frequency, at 17% prior to ERT, declined to 5% or less in each of the 3 years following the initiation of ERT (t-test, p <0.0001). Similarly, bone pain, reported in 49% of patients prior to ERT, declined to approximately 30% in each of the 3 years following the initiation of ERT (t-test, p <0.0001) Yr from ERT initial infusion −1 YEAR 1 YEAR 2 YEARS 3 YEARS *n refers to number of patients Bone crisis n = 219(100%) 38(17%) 10(5%) 1(0%) 6(3%) Bone pain n = 244(100%) 119(49%) 74(30%) 71(29%) 73(30%) These results provide strong clinical evidence for ERT’s effectiveness in the reduction of bone crises and bone pain in type 1 GD.