title: A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease.
abstract: BACKGROUND
  Gaucher disease is the first lysosomal storage disease for which specific therapy became available. Over 4800 patients have been treated with enzyme replacement therapy. Analysis of Gaucher disease registry data has outlined the clinical heterogeneity of the disease and the different responses to treatment from patient to patient, and for different organs. This variability in clinical response justifies the development of a severity score index to assess disease activity, stage and prognosis, and to quantify the effects of treatment.
  
  
  METHODS
  The new scoring system proposed here, the "Gaucher Disease Severity Score Index - Type I" (GauSSI-I), is based on the clinical experience of the authors and an extensive literature review, including data from the International Gaucher Registry. In particular for skeletal disease, all the available scoring systems have been reviewed and compared in order to provide a skeletal scoring system that allows use of any of the different methods on an equivalent basis.
  
  
  RESULTS
  The new scoring system, GauSSI-I, was developed. Six specific domains, in which different items were scored according to their impact on morbidity, were characterized. GauSSI-I was evaluated in 53 type I Gaucher patients treated with imiglucerase, and it was compared to the Zimran score, the only severity index score so far available.
  
  
  CONCLUSIONS
  The GauSSI-I is a reliable method for staging the severity of adult type I Gaucher disease, and it is more sensitive than the Zimran score for monitoring the response to treatment.
authors.affiliation: Rare Disease Unit, II Division of Pediatrics, Gaslini Institute, Genova, Italy. majadirocco@ospedale-gaslini.ge.it
authors.forename: Maja
authors.initials: M
authors.lastname: Di Rocco
authors.forename: Fiorina
authors.initials: F
authors.lastname: Giona
authors.forename: Francesca
authors.initials: F
authors.lastname: Carubbi
authors.forename: Silvia
authors.initials: S
authors.lastname: Linari
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Minichilli
authors.forename: Roscoe O
authors.initials: RO
authors.lastname: Brady
authors.forename: Giuliano
authors.initials: G
authors.lastname: Mariani
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D015519:Bone Density; D001851:Bone Diseases, Metabolic / Q000209:etiology; D001853:Bone Marrow / Q000473:pathology; D057487:Enzyme Therapy; D005776:Gaucher Disease / Q000150:complications / Q000188:drug therapy* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008168:Lung / Q000473:pathology; D010641:Phenotype; D012720:Severity of Illness Index; D014781:Viscera / Q000473:pathology; D004798:Enzymes
chemical_list: D004798:Enzymes