Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy

Cabrera-Salazar, Mario A.; O’Rourke, Erin; Henderson, Nadene; Wessel, Howard; Barranger, John A.

doi:10.1016/j.cccn.2004.02.018

Cited by 60 publications

(23 citation statements)

References 17 publications

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“…As illustrated in figure 5, chitotriosidase decline during ERT was not linear, but displayed a steep decrease after the first doses, followed by a slow, sometimes incomplete reduction. Our results are in agreement with previous reports, indicating a major decrease of chitotriosidase activity in the first months of ERT (24,25). The prediction of its evolution, related to the therapeutic dose, is, in our view, a useful tool for treating physicians and therefore we propose an equation for calculating the residual chitotriosidase activity.…”

Section: Discussionsupporting

confidence: 81%

“…The prediction of its evolution, related to the therapeutic dose, is, in our view, a useful tool for treating physicians and therefore we propose an equation for calculating the residual chitotriosidase activity. Indeed, many authors pointed out the necessity of making quick therapeutic adjustments, based on chitotriosidase evolution, in order to prevent the occurrence of long-term complications (24,26).…”

Section: Discussionmentioning

confidence: 99%

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Laboratory diagnosis and follow-up of Romanian Gaucher disease patients

Drugan

Caillaud

et al. 2017

Revista Romana De Medicina De Laborator

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Background: Gaucher disease (GD) is caused by a recessively inherited deficiency of glucocerebrosidase (recTL, recNciI, recA456P) were screened by DNA sequencing. Plasma chitotriosidase served as a biomarker of disease severity throughout the follow-up period. Results: 66 patients had the non-neuronopathic (type 1) form of GD and 3 had the chronic neuronopathic (type 3) phenotype. We identified 79% of the mutant alleles, among which the most frequent mutations were N370S (54%) and L444P (18%). We found a statistically significant (p<0.001) and moderate to good correlation between the total therapeutic dose and the residual chitotriosidase activity (R = 0.621). After two years of treatment, we noticed statistically significant variations in chitotriosidase activity corresponding to the most frequent genotypes (N370S/ unknown allele, N370S/L444P, N370S/N370S and N370S/R463Q).Conclusions: Allele distribution displayed specific features in Romanian GD patients, such as the high prevalence of the N370S allele. Chitotriosidase activity measurement allowed the investigation of genotype influence on treatment outcome.

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Section: Discussionsupporting

confidence: 81%

Section: Discussionmentioning

confidence: 99%

Laboratory diagnosis and follow-up of Romanian Gaucher disease patients

Drugan

Caillaud

et al. 2017

Revista Romana De Medicina De Laborator

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“…Several studies also have shown a relationship between parameters of disease burden such as SSI and organ volumes and chitotriosidase levels. 32,33 Its use as a biomarker is limited by the observation that 6% of the population lacks activity and 30% carries a mutation that results in lower activities. 34 In heterozygote patients, chitotriosidase levels may be multiplied by 2 to allow adequate comparison with Gaucher patients with normal chitotriosidase genotypes.…”

Section: Discussionmentioning

confidence: 99%

Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis

Fost

Hollak²,

Groener³

et al. 2006

Blood

132

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Dosing of enzyme replacement therapy (ERT) for Gaucher disease type 1 is still a subject of debate and varies from 15 to 130 U/kg/mo, making a huge economic difference of US $70 000 to US $380 000 (€55 000-300 000) per patient per year. To investigate whether this difference in dosing ultimately translates into a different response, we retrospectively compared long-term outcome of ERT at 2 large European treatment centers, Academic Medical Center, Amsterdam, The Netherlands (n ‫؍‬ 49, median dose, 15-30 U/kg/4 wks) and Heinrich-Heine University, Duesseldorf, Germany (n ‫؍‬ 57, median dose, 80 U/kg/4 wks). These adult cohorts had a similar genetic background. All follow-up parameters were matched separately at baseline, to avoid bias with respect to disease severity. Improvement in hemoglobin, platelet count, and hepatosplenomegaly was not significantly different between both cohorts, whereas plasma chitotriosidase and bone marrow involvement by magnetic resonance imaging improved more quickly and was more pronounced in the higher-dosed group. Major bone complications rarely occurred in both groups.

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“…Several biomarkers (chitotriosidase, ferritin, angiotensinconverting enzyme, and tartrate-resistant acid phosphatase) are elevated during GD evolution. Their concentrations rise with disease progression and decrease during ERT (23). One main clinical endpoint for evaluation of treatment should be the reduction of repeated occurrence of BE.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Estimation Methods and Power of Tests of Discrete Covariates in Repeated Time-to-Event Parametric Models: Application to Gaucher Patients Treated by Imiglucerase

Vigan

Stirnemann²

2014

AAPS J

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Abstract. Analysis of repeated time-to-event data is increasingly performed in pharmacometrics using parametric frailty models. The aims of this simulation study were (1) to assess estimation performance of Stochastic Approximation Expectation Maximization (SAEM) algorithm in MONOLIX, Adaptive Gaussian Quadrature (AGQ), and Laplace algorithm in PROC NLMIXED of SAS and (2) to evaluate properties of test of a dichotomous covariate on occurrence of events. The simulation setting is inspired from an analysis of occurrence of bone events after the initiation of treatment by imiglucerase in patients with Gaucher Disease (GD). We simulated repeated events with an exponential model and various dropout rates: no, low, or high. Several values of baseline hazard model, variability, number of subject, and effect of covariate were studied. For each scenario, 100 datasets were simulated for estimation performance and 500 for test performance. We evaluated estimation performance through relative bias and relative root mean square error (RRMSE). We studied properties of Wald and likelihood ratio test (LRT). We used these methods to analyze occurrence of bone events in patients with GD after starting an enzyme replacement therapy. SAEM with three chains and AGQ algorithms provided good estimates of parameters much better than SAEM with one chain and Laplace which often provided poor estimates. Despite a small number of repeated events, SAEM with three chains and AGQ gave small biases and RRMSE. Type I errors were closed to 5%, and power varied as expected for SAEM with three chains and AGQ. Probability of having at least one event under treatment was 19.1%.

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Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy

Cited by 60 publications

References 17 publications

Laboratory diagnosis and follow-up of Romanian Gaucher disease patients

Laboratory diagnosis and follow-up of Romanian Gaucher disease patients

Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis

Evaluation of Estimation Methods and Power of Tests of Discrete Covariates in Repeated Time-to-Event Parametric Models: Application to Gaucher Patients Treated by Imiglucerase

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