title: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.
abstract: OBJECTIVE
  We studied the effect of long-term alglucerase/imiglucerase (Ceredase®/Cerezyme®, Genzyme, a Sanofi company, Cambridge, MA, USA) treatment on hematological, visceral, and bone manifestations of Gaucher disease type 1 (GD1).
  
  
  METHODS
  The International Collaborative Gaucher Group (ICGG) Gaucher Registry identified GD1 patients treated with alglucerase/imiglucerase who had dose and clinical data at first infusion and after 10 years of follow-up. Data for hemoglobin, platelet count, organ volumes, bone pain, and bone crisis were analyzed. Tests of the null hypothesis (no change from first infusion to 10 years) were performed using t tests for within-patient absolute change in continuous measurements and McNemar/chi-square tests for change in distributions using categorical values. An alpha level of 0.05 designated statistical significance.
  
  
  RESULTS
  As of October 2011, 557 nonsplenectomized and 200 splenectomized patients met the inclusion criteria. The majority of GD1 patients had at least one N370S allele. Compared with nonsplenectomized patients at first infusion, splenectomized patients had lower percentages of anemia (26.0 % vs. 42.8 %) and thrombocytopenia (14.2 % vs. 76.3 %), similar percentages of moderate or severe hepatomegaly (81.2 % vs. 80.0 %), and higher percentages of bone pain (88.9 % vs. 52.4 %) and bone crises (38.3 % vs. 16.0 %). After 10 years, both groups showed significant (p < 0.05) improvements in mean hemoglobin levels, platelet count, liver, and spleen (nonsplenectomized) volumes, and bone crises. Initial dosing in both groups ranged from <15 U/kg to ≤90 U/kg every 2 weeks. After 10 years, the majority was receiving 15 to ≤45 U/kg every 2 weeks.
  
  
  CONCLUSIONS
  Ten years of imiglucerase treatment results in sustainable improvements in all GD1 parameters.
authors.affiliation: University Research Foundation for Lysosomal Storage Diseases, Inc, Northwest Oncology Hematology Associates PA, Coral Springs, FL 33065, USA. boneal@winning.com
authors.forename: Neal J
authors.initials: NJ
authors.lastname: Weinreb
authors.forename: Jack
authors.initials: J
authors.lastname: Goldblatt
authors.forename: Jacobo
authors.initials: J
authors.lastname: Villalobos
authors.forename: Joel
authors.initials: J
authors.lastname: Charrow
authors.forename: J Alexander
authors.initials: JA
authors.lastname: Cole
authors.forename: Marcelo
authors.initials: M
authors.lastname: Kerstenetzky
authors.forename: Stephan
authors.initials: S
authors.lastname: vom Dahl
authors.forename: Carla
authors.initials: C
authors.lastname: Hollak
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy; D005260:Female; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000188:drug therapy* / Q000453:epidemiology; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012042:Registries / Q000706:statistics & numerical data; D013997:Time Factors; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D005962:Glucosylceramidase; C090568:imiglucerase