TY - JOUR
T1 - Individualization of long-term enzyme replacement therapy for Gaucher disease
AU - Andersson, Hans C.
AU - Charrow, Joel
AU - Kaplan, Paige
AU - Mistry, Pramod
AU - Pastores, Gregory M.
AU - Prakesh-Cheng, Ainu
AU - Rosenbloom, Barry E.
AU - Scott, C. Ronald
AU - Wappner, Rebecca S.
AU - Weinreb, Neal J.
PY - 2005/2
Y1 - 2005/2
N2 - Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous condition affecting multiple organ systems. Patients with nonneuronopathic (type 1) Gaucher disease may suffer from hepatomegaly, splenomegaly, thrombocytopenia, bleeding tendencies, anemia, hypermetabolism, skeletal pathology, growth retardation, pulmonary disease, and decreased quality of life. Enzyme replacement therapy (ERT) with mannose-terminated glucocerebrosidase (imiglucerase, Cerezyme, Genzyme Corporation, Cambridge, MA) reverses or ameliorates many of the manifestations of type 1 Gaucher disease. However, due to the variable pattern and severity of disease, and the uncertain manner of progression, implementation of treatment, choice of initial and maintenance imiglucerase dose, and evaluation of the therapeutic response must be tailored to the individual patient. For the past 14 years, the US Regional Coordinators of the International Collaborative Gaucher Group have individually and collectively developed extensive clinical experience in managing patients with Gaucher disease. In this review, we present recommendations for initial imiglucerase treatment and subsequent dose adjustments based on a schedule of regular assessment and monitoring, and achievement and maintenance of defined therapeutic goals.
AB - Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous condition affecting multiple organ systems. Patients with nonneuronopathic (type 1) Gaucher disease may suffer from hepatomegaly, splenomegaly, thrombocytopenia, bleeding tendencies, anemia, hypermetabolism, skeletal pathology, growth retardation, pulmonary disease, and decreased quality of life. Enzyme replacement therapy (ERT) with mannose-terminated glucocerebrosidase (imiglucerase, Cerezyme, Genzyme Corporation, Cambridge, MA) reverses or ameliorates many of the manifestations of type 1 Gaucher disease. However, due to the variable pattern and severity of disease, and the uncertain manner of progression, implementation of treatment, choice of initial and maintenance imiglucerase dose, and evaluation of the therapeutic response must be tailored to the individual patient. For the past 14 years, the US Regional Coordinators of the International Collaborative Gaucher Group have individually and collectively developed extensive clinical experience in managing patients with Gaucher disease. In this review, we present recommendations for initial imiglucerase treatment and subsequent dose adjustments based on a schedule of regular assessment and monitoring, and achievement and maintenance of defined therapeutic goals.
KW - Dose adjustment
KW - Enzyme replacement therapy
KW - Gaucher disease
KW - Imiglucerase
KW - Therapeutic goals
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U2 - 10.1097/01.GIM.0000153660.88672.3C
DO - 10.1097/01.GIM.0000153660.88672.3C
M3 - Review article
C2 - 15714077
AN - SCOPUS:20944439209
SN - 1098-3600
VL - 7
SP - 105
EP - 110
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 2
ER -