Abstract
Background. Enzyme Replacement Therapy (ERT) is the standard of care in Gaucher disease. The effects of withdrawal or reduced doses are debated, thus a retrospective cohort study was conducted to investigate clinical and laboratory differences in 34 Gaucher type 1 patients experiencing an ERT dosage reduction after the forced temporary imiglucerase shortage in 2009.
Methods. Haemoglobin concentration, leukocytes and platelets counts, and chitotriosidase activity were assessed at baseline and after 6 and 12 months (t0, t6, t12), while bone pain, energy, work or school performance, concentration, memory and social life every 3 months.
Results. The cohort was made up of 18 males and 16 females (medians: age 41.8 years, therapy duration 14.1 years, dosage reduction 35.5%). Haemoglobin, leukocytes and platelets remained substantially stable, while chitotriosidase activity showed an increase, especially after t6. Age, splenectomy or genotype were not associated with laboratory parameters changes, except for a significant median increase of chitotriosidase activity in non-splenectomised patients after 12 months (p = 0.01). At 3, 6, 9 and 12 months, more than 50% patients reported at least one problem in subjective well-being (56%, 65%, 70%, 58%, respectively), while bone pain occurred or worsened in 13/33, 13/32, 7/28 and 5/26 patients, respectively. No bone crises were reported.
Conclusions. Drug reduction did not induce substantial modification in the laboratory values but seems to have influenced the well-being perception of some Gaucher patients. Thus, bone pain, general health and quality of life should be carefully monitored during ERT reductions.
Competing interests: None declared
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Communicated by: Verena Peters
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Synopsis
Bone pain, general health and quality of life should be carefully monitored during ERT reductions.
Authors’ Contributions
LD participated in the study design, performed the statistical analysis and drafted the manuscript. AS participated in the study design and in the draft of the manuscript. AD carried out the chitotriosidase activity and genotype analyses and participated in the draft of the manuscript. DM acquired the data and participated in the draft of the manuscript. GL acquired the data and participated in the draft of the manuscript. GC participated in the design of the study. BB conceived the study, participated in its design and coordination and in the draft of the manuscript. All authors read and approved the final manuscript.
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The authors declare that they have no competing interests.
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Deroma, L. et al. (2012). Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients. In: Brown, G., Morava, E., Peters, V., Gibson, K., Zschocke, J. (eds) JIMD Reports - Case and Research Reports, 2012/4. JIMD Reports, vol 7. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_158
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DOI: https://doi.org/10.1007/8904_2012_158
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