Could Enzyme Replacement Therapy for Long Time Normalize Chitotriosidase Activity in Type 1 Gaucher Disease

Background: Extreme elevations of plasma chitotriosidase (CT) are observed in Gaucher’s disease (GD) patients. This enzyme has been considered as a response marker to enzyme replacement therapy (ERT). It has been previously described the normalization of enzymatic activity only in patients who have been treated by bone marrow transplantation (Young E et al, 1997). It is widely accepted that GD subjects receiving ERT show improvements in clinical symptoms and regression of signs of disease, such as disappearance or reduction of visceral enlargement, normalized haematological parameters and skeletal improvement and also reduce the CT activity values, but these do not actually reach a normal range. Surprisingly, in the follow-up of patients included in the Spanish Gaucher Registry, some cases showed normalization of their CT activity after several years under therapy. The purpose of this study is to analyze the clinical, analytical and genotype characteristics of type 1 GD patients that have normalized their CT activity and to compare with the rest of patients under ERT for same period of follow-up. Patients and Methods: We have studied a cohort of 64 type 1 GD patients receiving ERT. We observed 20 GD patients who reach a normal CT activity range (CT activity Clinical data Analytical data