title: The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease.
abstract: The effect of enzyme replacement therapy (ERT) on bone crisis and bone pain was investigated in patients with Gaucher disease (GD) type 1 followed over 4 years. Data from the International Collaborative Gaucher Group Gaucher Registry were used. Only patients with bone crisis and/or bone pain data for 1 year prior to ERT, and for each of 3 years after the start of ERT, were included. Bone crises were reported in 17% of patients during the year before starting ERT. The frequencies of bone crises decreased to 5%, <1% and 3% for 1, 2, and 3 years after initiation of treatment, respectively (p < 0.0001). Bone pain followed a similar pattern of response. Bone pain was reported in 49% of patients the year before treatment and decreased to 30% in the first year, 29% in the second year, and 30% in the third year of ERT (p < 0.0001). ERT is associated with a reduction in bone crisis and bone pain in patients with GD type 1 . This study shows that significant improvements in symptoms of skeletal disease are achievable clinical outcomes and treatment goals in GD type 1.
authors.affiliation: Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. jcharrow@northwestern.edu
authors.forename: J
authors.initials: J
authors.lastname: Charrow
authors.forename: B
authors.initials: B
authors.lastname: Dulisse
authors.forename: G A
authors.initials: GA
authors.lastname: Grabowski
authors.forename: N J
authors.initials: NJ
authors.lastname: Weinreb
mesh_terms: D000293:Adolescent; D000328:Adult; D001847:Bone Diseases / Q000188:drug therapy* / Q000209:etiology; D001842:Bone and Bones / Q000187:drug effects / Q000473:pathology; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000150:complications / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000172:deficiency / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D010146:Pain / Q000188:drug therapy; D012042:Registries; D016896:Treatment Outcome
chemical_list: D005962:Glucosylceramidase