title: Individualization of long-term enzyme replacement therapy for Gaucher disease.
abstract: 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.
authors.affiliation: Human Genetics Program, Hayward Genetics Center, Tulane University Medical School, New Orleans, Louisiana, USA.
authors.forename: Hans C
authors.initials: HC
authors.lastname: Andersson
authors.forename: Joel
authors.initials: J
authors.lastname: Charrow
authors.forename: Paige
authors.initials: P
authors.lastname: Kaplan
authors.forename: Pramod
authors.initials: P
authors.lastname: Mistry
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Pastores
authors.forename: Ainu
authors.initials: A
authors.lastname: Prakash-Cheng
authors.forename: Ainu
authors.initials: A
authors.lastname: Prakesh-Cheng
authors.forename: Barry E
authors.initials: BE
authors.lastname: Rosenbloom
authors.forename: C Ronald
authors.initials: CR
authors.lastname: Scott
authors.forename: Rebecca S
authors.initials: RS
authors.lastname: Wappner
authors.forename: Neal J
authors.initials: NJ
authors.lastname: Weinreb
mesh_terms: D018450:Disease Progression; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D005776:Gaucher Disease / Q000150:complications / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000627:therapeutic use*; D006801:Humans; D011788:Quality of Life; D011994:Recombinant Proteins; D012307:Risk Factors; D012720:Severity of Illness Index
chemical_list: D011994:Recombinant Proteins; D005962:Glucosylceramidase; C090568:imiglucerase