title: Long-term effectiveness of enzyme replacement therapy in adults with Gaucher disease: results from the NCS-LSD cohort study.
abstract: OBJECTIVE
  To determine the effectiveness of enzyme replacement therapies (ERT) for adults with Gaucher disease (GD).
  
  
  METHODS
  A longitudinal, multi-centre cohort study, including prospective and retrospective clinical data. Age- and gender-adjusted treatment effects were estimated using generalised linear mixed models. Treated patients contributed data before and during treatment. Untreated patients contributed natural history data.
  
  
  METHODS
  Consenting adults (N = 150, aged 16 to 83 years) with a diagnosis of GD who attended a specialist treatment centre in England. At recruitment, 131 patients were receiving ERT (mean treatment duration, 10.8 years; range 0-18 years).
  
  
  METHODS
  Clinical outcomes chosen to reflect disease progression, included platelet count; haemoglobin; absence/presence of bone pain; spleen and liver volumes and AST levels.
  
  
  RESULTS
  One hundred and fifty adults were recruited. Duration of ERT was associated with statistically significant improvements in platelet count (p < 0.001), haemoglobin (p < 0.001), liver and spleen volumes (p < 0.001) and AST levels (p = 0.02).
  
  
  CONCLUSIONS
  These data provide further evidence of the long-term effectiveness of ERT in adults with GD.
authors: Institute of Health Research, University of Exeter Medical School, Veysey Building, Salmon Pool Lane, Exeter, Devon, UK, EX2 4SG.
authors: L J
authors: LJ
authors: Anderson
authors: W
authors: W
authors: Henley
authors: K M
authors: KM
authors: Wyatt
authors: V
authors: V
authors: Nikolaou
authors: D A
authors: DA
authors: Hughes
authors: S
authors: S
authors: Waldek
authors: S
authors: S
authors: Logan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001219:Aspartate Aminotransferases / Q000097:blood; D018450:Disease Progression; D004739:England; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006454:Hemoglobins / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000378:metabolism; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D010976:Platelet Count; D011446:Prospective Studies; D012044:Regression Analysis; D012189:Retrospective Studies; D013154:Spleen / Q000378:metabolism; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D006454:Hemoglobins; D001219:Aspartate Aminotransferases; D005962:Glucosylceramidase