Minimal disease activity in Gaucher disease: Criteria for definition

Maja Di Rocco, Generoso Andria, Bruno Bembi, Francesca Carubbi, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Michelina Sibilio, Vincenzo Spina, Maria Domenica Cappellini

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Gaucher disease type I is a metabolic disorder caused by a genetic deficiency of lysosomal β-glucocerebrosidase that leads to accumulation of glucocerebroside in macrophages, thus causing damage in different organ systems. Enzyme replacement therapy with imiglucerase improves organ impairment and clinical manifestations, but patients differ in response to treatment. While clinical remission is the most desirable therapeutic outcome, a more realistic goal in patients with high disease burden is reasonably good clinical status despite persistence of residual biochemical or imaging abnormalities. Therefore, the concept of minimal disease activity - used in certain haematological or rheumatologic conditions - needs to be introduced in Gaucher disease, with a level of disease activity that patients and physicians consider a useful treatment target. In this paper, we propose specific parameters and criteria for defining minimal disease activity in Gaucher disease and its stability over time, based on three major systemic domains typically involved: haematological, visceral, and skeletal. Biomarker parameters were not included as criteria, because currently they do not adequately reflect disease evolution in individual patients. Neurological and respiratory domains were also excluded, as their involvement per se indicates severe disease unlikely to respond to enzyme replacement therapy and achieve minimal disease status. Our goal in defining minimal disease activity and stability is to identify a tool to facilitate treatment decisions in clinical practice.

Original languageEnglish
Pages (from-to)521-525
Number of pages5
JournalMolecular Genetics and Metabolism
Volume107
Issue number3
DOIs
Publication statusPublished - Nov 2012

Fingerprint

Gaucher Disease
Enzyme Replacement Therapy
Glucosylceramides
Therapeutics
Glucosylceramidase
Macrophages
Biomarkers
Enzymes
Physicians

Keywords

  • Clinical domains
  • Disease stability
  • Gaucher disease
  • Minimal disease activity

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Minimal disease activity in Gaucher disease : Criteria for definition. / Di Rocco, Maja; Andria, Generoso; Bembi, Bruno; Carubbi, Francesca; Giona, Fiorina; Giuffrida, Gaetano; Linari, Silvia; Sibilio, Michelina; Spina, Vincenzo; Cappellini, Maria Domenica.

In: Molecular Genetics and Metabolism, Vol. 107, No. 3, 11.2012, p. 521-525.

Research output: Contribution to journalArticle

Di Rocco, M, Andria, G, Bembi, B, Carubbi, F, Giona, F, Giuffrida, G, Linari, S, Sibilio, M, Spina, V & Cappellini, MD 2012, 'Minimal disease activity in Gaucher disease: Criteria for definition', Molecular Genetics and Metabolism, vol. 107, no. 3, pp. 521-525. https://doi.org/10.1016/j.ymgme.2012.08.009
Di Rocco, Maja ; Andria, Generoso ; Bembi, Bruno ; Carubbi, Francesca ; Giona, Fiorina ; Giuffrida, Gaetano ; Linari, Silvia ; Sibilio, Michelina ; Spina, Vincenzo ; Cappellini, Maria Domenica. / Minimal disease activity in Gaucher disease : Criteria for definition. In: Molecular Genetics and Metabolism. 2012 ; Vol. 107, No. 3. pp. 521-525.
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