title: Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study.
abstract: OBJECTIVE
  To determine the effectiveness of enzyme replacement therapies (ERT) for children with Gaucher disease (GD).
  
  
  METHODS
  A longitudinal cohort study including prospective and retrospective clinical data. Age- and gender-adjusted treatment effects were estimated using generalised linear mixed models. Children on treatment contributed data before and during treatment. Children not on treatment contributed natural history data.
  
  
  METHODS
  Consenting children (N = 25, aged 1.1 to 15.6 years) with a diagnosis of GD (14 with GD1 and 11 with GD3) who attended a specialist treatment centre in England. At recruitment, 24 patients were receiving ERT (mean treatment duration, 5.57 years; range 0-13.7 years).
  
  
  METHODS
  Clinical outcomes chosen to reflect disease progression, included platelet count; haemoglobin and absence/presence of bone pain.
  
  
  RESULTS
  Duration of ERT was associated with statistically significant improvements in platelet count (p < 0.001), haemoglobin (p < 0.001), and reported bone pain (p = 0.02). The magnitude of effect on haematological parameters was greater in children with GD3 than in those with GD1.
  
  
  CONCLUSIONS
  These data provide further evidence of the long-term effectiveness of ERT in children with GD.
authors.affiliation: Institute of Health Research, University of Exeter Medical School, Veysey Building, Salmon Pool Lane, Exeter, Devon, UK, EX2 4SG.
authors.forename: L J
authors.initials: LJ
authors.lastname: Anderson
authors.forename: W
authors.initials: W
authors.lastname: Henley
authors.forename: K M
authors.initials: KM
authors.lastname: Wyatt
authors.forename: V
authors.initials: V
authors.lastname: Nikolaou
authors.forename: S
authors.initials: S
authors.lastname: Waldek
authors.forename: D A
authors.initials: DA
authors.lastname: Hughes
authors.forename: G M
authors.initials: GM
authors.lastname: Pastores
authors.forename: S
authors.initials: S
authors.lastname: Logan
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; 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 / Q000032:analysis; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D010976:Platelet Count; D011446:Prospective Studies; D012044:Regression Analysis; D012189:Retrospective Studies; D016896:Treatment Outcome
chemical_list: D006454:Hemoglobins; D005962:Glucosylceramidase