Effects of imilglucerase withdrawal on an adult with gaucher disease

Schwartz, Ida Vanessa Döederlein; Karam, Simone de Menezes; Ashton‐Prolla, Patrícia; Michelin, Kristiane; Coelho, Janice Carneiro; Pires, Ricardo Flores; Pereira, Maria Luiza Saraiva; Giugliani, Roberto

doi:10.1046/j.1365-2141.2001.02821-13.x

Cited by 8 publications

(4 citation statements)

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“…As for ERT withdrawal, Elstein et al reported stable clinical conditions and laboratory values in 15 patients after 4 years of follow-up (Elstein et al 2000), consistent with the results of a Brazilian case report describing clinical stability after a 3-month withdrawal (Schwartz et al 2001). However, several authors reported the deterioration of haematological parameters (Hb, Plt, Ct) and an increase in organomegaly (Zimran et al 2011;Grinzaid et al 2002;Vom Dahl et al 2001) after an ERT withdrawal lasting from 3 to more than 24 months.…”

Section: Discussionsupporting

confidence: 65%

“…Moreover, although no trials were performed to ascertain the possible effects of a temporary dosage reduction or withdrawal, this issue had already been dealt with before the occurrence of imiglucerase shortage (Drelichman et al 2007;Elstein et al 2000;Grinzaid et al 2002;Schwartz et al 2001;Vom Dahl et al 2001). However, each study analysed only a few patients and the results among the studies were not homogeneous.…”

Section: Introductionmentioning

confidence: 99%

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Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients

et al. 2012

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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.

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Section: Discussionsupporting

confidence: 65%

Section: Introductionmentioning

confidence: 99%

Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients

et al. 2012

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“…The second part of our study builds on an unforeseen discontinuation of treatment. Such “treatment holidays” have been known from case reports (e.g., [ 18 , 25 , 26 ]) and from a small heterogeneous patient series [ 17 ] for almost 20 years. The 2009/2010 shortage of imiglucerase [ 19 ] provided more extensive corresponding data (e.g., [ 20 , 21 , 22 ]).…”

Section: Discussionmentioning

confidence: 99%

Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

Cozma

Cullufi

Kramp

et al. 2020

IJMS

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Gaucher disease (GD) is a lysosomal storage disorder that responds well to enzyme replacement therapy (ERT). Certain laboratory parameters, including blood concentration of glucosylsphingosine (Lyso-Gb1), the lyso-derivate of the common glycolipid glucocerebroside, correlate with clinical improvement and are therefore considered candidate-monitoring biomarkers. Whether they can indicate a reduction or loss of treatment efficiency, however, has not been systematically addressed for obvious reasons. We established and validated measurement of Lyso-Gb1 from dried blood spots (DBSs) by mass spectrometry. We then characterized the assay’s longitudinal performance in 19 stably ERT-treated GD patients by dense monitoring over a 3-year period. The observed level of fluctuation was accounted for in the subsequent development of a unifying data normalization concept. The resulting approach was eventually applied to data from Lyso-Gb1 measurements after an involuntary treatment break for all 19 patients. It enabled separation of the “under treatment” versus “not under treatment” conditions with high sensitivity and specificity. We conclude that Lyso-Gb1 determination from DBSs indicates treatment issues already at an early stage before clinical consequences arise. In addition to its previously shown diagnostic utility, Lyso-Gb1 thereby qualifies as a monitoring biomarker in GD patients.

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“…Modifications such as of the attainment of any therapeutic goal indicates a failure of the treatment modification, The achievement of therapeutic goals also can serve as a benchmark for assessing the the Gaucher Registry guidelines (Gaucher Registry, 2004;Weinreb et al, 2004). Reversal and progressively increased biomarkers when treatment is stopped (Elstein et al, 2000;Schwartz et al, 2001;vom Dahl et al, 2001;Grinzaid et al, 2002;Toth et al, 2003). Few issues or changes in lifestyle.…”

Section: Day Before Patient Visitmentioning

confidence: 99%

Therapeutic Goals in the Treatment of Gaucher Disease

Weinreb¹

2007

Lysosomal Storage Disorders

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Effects of imilglucerase withdrawal on an adult with gaucher disease

Cited by 8 publications

References 2 publications

Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients

Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients

Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

Therapeutic Goals in the Treatment of Gaucher Disease

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