Impact of velaglucerase alfa on bone marrow burden score in adult patients with type 1 Gaucher disease: 7-Year follow-up

2014 ◽  
Vol 53 (1-2) ◽  
pp. 56-60 ◽  
Author(s):  
Deborah Elstein ◽  
Andrew H. Haims ◽  
David Zahrieh ◽  
Gabriel M. Cohn ◽  
Ari Zimran
Keyword(s):  
Bone Marrow ◽  
Gaucher Disease ◽  
Adult Patients ◽  
Type 1 Gaucher Disease

Long-term follow-up of 103 untreated adult patients with type 1 Gaucher disease

2019 ◽  
Vol 126 (2) ◽  
pp. S49
Author(s):  
Tama Dinur ◽  
Ari Zimran ◽  
Michal Becker Cohen ◽  
David Arkadir ◽  
Claudia Cozma ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Adult Patients ◽  
Long Term Follow Up ◽  
Type 1 Gaucher Disease

scholarly journals Standardization of MRI and Scintigraphic Scores for Assessing the Severity of Bone Marrow Involvement in Adult Patients With Type 1 Gaucher Disease

2016 ◽  
Vol 206 (6) ◽  
pp. 1245-1252 ◽  
Author(s):  
Giuliano Mariani ◽  
Marzio Perri ◽  
Fabrizio Minichilli ◽  
Simona Ortori ◽  
Silvia Linari ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Gaucher Disease ◽  
Bone Marrow Involvement ◽  
Adult Patients ◽  
Type 1 Gaucher Disease

scholarly journals A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease

2020 ◽  
Vol 9 (8) ◽  
pp. 2343
Author(s):  
Christine Serratrice ◽  
Jérôme Stirnemann ◽  
Amina Berrahal ◽  
Nadia Belmatoug ◽  
Fabrice Camou ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Lewy Body ◽  
Gaucher Disease ◽  
Bone Lesion ◽  
Specific Treatment ◽  
Cross Sectional ◽  
Type 1 Gaucher Disease ◽  
Bone Complications

Patients with type 1 Gaucher disease (GD1) present thrombocytopenia, anemia, organomegaly, and bone complications. Most experts consider that the less aggressive forms do not require specific treatment. However, little is known about the disease course of these forms. The objective of this cross-sectional retrospective study was to compare the clinical, radiological, and laboratory characteristics of patients with less severe GD1 at diagnosis and at the last evaluation to identify features that might lead to potential complications. Non-splenectomized and never-treated patients (19 women and 17 men) were identified in the French Gaucher Disease Registry (FGDR). Their median age was 36.6 years (2.4–75.1), and their median follow-up was 7.8 years (0.4–32.4). Moreover, 38.7% were heterozygous for the GBA1 N370S variant, and 22.6% for the GBA1 L444P variant. From diagnosis to the last evaluation, GD1 did not worsen in 75% of these patients. Some parameters improved (fatigue and hemoglobin concentration), whereas platelet count and chitotriosidase level remained stable. In one patient (2.7%), Lewy body dementia was diagnosed at 46 years of age. Bone lesion onset was late and usually a single event in most patients. This analysis highlights the genotypic heterogeneity of this subgroup, in which disease could remain stable and even improve spontaneously. It also draws attention to the possible risk of Lewy body disease and late onset of bone complications, even if isolated, to be confirmed in larger series and with longer follow-up.

scholarly journals Bone Marrow Involvement in Patients with Type 1 Gaucher Disease Receiving Low-Dose Long Term Enzyme Replacement Therapy (median 18 years)

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 4862-4862
Author(s):  
Shoshana Revel-Vilk ◽  
Jeffrey Szer ◽  
Michal Becker Cohen ◽  
Ari Zimran
Keyword(s):  
Bone Marrow ◽  
Gaucher Disease ◽  
Research Funding ◽  
Low Dose ◽  
Bone Marrow Involvement ◽  
Bone Marrow Infiltration ◽  
Enzyme Replacement ◽  
Fat Fraction ◽  
Type 1 Gaucher Disease

Bone complications are the most dramatic and life-impairing outcomes of type 1 Gaucher disease (GD1), a common lysosomal storage disorder. Bone marrow infiltration by Gaucher cells substantially decreases the bone marrow fat fraction (FF), and the extent of this reduction correlates with the overall severity of skeletal manifestations in this disorder. Previous studies have demonstrated that the degree of infiltration can best be estimated by magnetic imaging resonance (MRI)-based quantitative chemical shift imaging (QCSI) and that the fat fraction (FF) score so derived can predict the risk of clinically important bone events. The aim of this study was to evaluate bone marrow involvement in GD1 patients who had received enzyme replacement therapy (ERT) for at least 5 years. Methods: Patients from SZMC Gaucher unit, ≥ 18 years, who were treated with ERT for ≥ 5 years, with a stable dose in the previous 6 months, were recruited. Patients taking another experimental drug, with past exposure to taliglucerase-alfa, presence of any medical, emotional, behavioral or psychological condition were excluded. Energy x-ray absorptiometry (DEXA) was performed at SZMC and the QSCI was performed at the Academic Medical Center in Amsterdam, Netherlands as previously described [Mass et al, Am J Radiol 2002:179:961-965]. A QCSI score of <0.30 was indicative of bone at risk. This investigator initiated clinical trial was approved IRB at SZMC and AMC and sponsored by Pfizer. Study number registration- MOH-2017-04-000351. Results: Thirty patients (13 females) at a median (range) age of 46 (19-71) years consented to participate in this study and to perform the QCSI test. GBA mutations of study patients included N370S homozygote (n=12), N370S compound heterozygote (n=17), and T431 homozygote (n=1). The median (range) duration of ERT was 18 (5-26) years. Thirteen patients were receiving imiglucerase as the primary ERT [median (range) duration, 19 (9-26) years], five patients were receiving velaglucerase alfa [median (range) duration, 11 ( 5-12) years], and 12 patients converted from imiglucerase to velaglucerase alfa [median (range) duration, 7 (6-10) years]. The majority of patients received low-dose regimen, i.e. 15 Units/kg/2 weeks (Table 1). The median (range) T score for lumbar spine from DEXA scans, available for 26 of 30 patients, was −1.3 (−2.8-0.0). The median (range) QCSI score was 0.42 (0.24-0.66). Seven patients, 23% (95% confidence interval 10%-42%), had abnormal QCSI FF scores (<0.30). Abnormal QSCI score was more common in female compared to male (Table 1) (p=0.025). Only one of these was menopausal. No differences were found in age, gender, genotype, history of splenectomy, duration and type of ERT and GD-related parameters between those with QSCI score of bone at risk to those with normal score (Table 1). In summary, these findings demonstrate that, despite prolonged treatment with imiglucerase and/or velalgucerase alfa, 23% of patients still had QCSI scores indicative of an inadequate response in bones. Nevertheless, most patients with prolonged low-dose ERT maintain a normal QCSI, indicative of a positive bone status. The higher prevalence of women in the cohort with low FF is not related to menopausal phase and remains unexplained. As no other patient-related nor GD-related parameter predicted abnormal bone marrow infiltration, a more widely available, quantitative measure of bone marrow infiltration is required for the assessment of response in bones to ERT for patients with GD1. The second phase of this study will evaluate the impact of a switch to a third ERT in those patients from this study with QCSI scores of <0.30. These patients will be offered treatment with taliglucerase alfa at equivalent doses and subsequent reassessment of any impact on clinical symptoms and QCSI scores evaluated. Disclosures Revel-Vilk: Takeda: Honoraria, Other: Travel, Research Funding; Prevail therapeutics: Honoraria, Other: Travel, Research Funding; Pfizer: Honoraria, Other: Travel, Research Funding; Sanofi: Honoraria, Other: Travel, Research Funding. Szer:Alexion: Honoraria, Other: Travel, Research Funding; Amgen: Honoraria, Other: Travel, Research Funding; Celgene: Honoraria, Other: Travel, Research Funding; MSD: Honoraria, Other: Travel, Research Funding; Novartis: Honoraria, Other: Travel, Research Funding; Pfizer: Honoraria, Other: Travel, Research Funding; Takeda: Honoraria, Other: Travel, Research Funding; Sanofi: Honoraria, Other: Travel, Research Funding; Prevail Therapeutics: Honoraria, Other: Travel, Research Funding. Zimran:Centogene: Other: research grant; Shire: Consultancy, Honoraria, Research Funding; TAKEDA: Honoraria; Pfize: Honoraria, Research Funding; Bio-events: Honoraria; Targeted Cell Therapies: Consultancy; Prevail Therapeutics: Consultancy.

scholarly journals Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment

2017 ◽  
Vol 179 (4) ◽  
pp. 635-647 ◽  
Author(s):  
Martine Regenboog ◽  
Anneloes E. Bohte ◽  
Erik M. Akkerman ◽  
Jaap Stoker ◽  
Carla E.M. Hollak
Keyword(s):  
Bone Marrow ◽  
Gaucher Disease ◽  
Residual Disease ◽  
Iron Storage ◽  
Type 1 Gaucher Disease

Avascular Necrosis in Untreated Patients with Type 1 Gaucher Disease.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 1353-1353
Author(s):  
Pramod K Mistry ◽  
Patrick Deegan ◽  
Ashok Vellodi ◽  
J. Alexander Cole ◽  
Michael Yeh ◽  
...  
Keyword(s):  
Incidence Rate ◽  
Avascular Necrosis ◽  
Gaucher Disease ◽  
Incidence Rates ◽  
Advisory Committees ◽  
Type 1 Gaucher Disease ◽  
Receive Treatment ◽  
To Receive

Abstract Abstract 1353 Poster Board I-375 Objective To determine the incidence of avascular necrosis (AVN) in untreated patients with type 1 Gaucher disease (GD1). Methods All patients with GD1 enrolled in the ICGG Gaucher Registry as of July 2007 were included in this analysis. All GD1 patients who either never received treatment or eventually went on to receive treatment were identified. Follow-up began on each patient's date of earliest reported assessment in the Registry. Among patients who never received treatment, follow-up continued until the last recorded assessment date in the Registry. For patients who eventually went on to receive treatment, follow-up continued until the date of initiation of therapy. Incidence rates (and Poisson exact 95% confidence intervals) of AVN were determined for both groups of patients. AVN was typically ascertained from X-Ray or MRI results. Results As of July 2007, the inclusion criteria were met by 3,497 patients. The incidence rate of AVN among untreated patients was 22.8 per 1,000 person years (95% CI 20.2 to 25.7). Patients with antecedent splenectomy (total or partial) had a higher incidence rate of AVN (46.6 per 1,000 person-years, 95% CI 38.4 to 56.1) compared to patients without a splenectomy (incidence rate 17.0 per 1,000 person-years, 95% CI 14.5 to 19.8). The primary sites where AVN was identified in both groups were the hip and femur. Conclusion This is the first epidemiologic analysis to estimate incidence rates of AVN among untreated patients with GD1. Splenectomy appears to be a risk factor for GD1-associated AVN. Based on the incidence results above and presupposing equal risk distribution, without therapeutic intervention, most patients should theoretically experience at least one episode of AVN at some point in their life. However, because the GD1 population is genotypically and phenotypically heterogeneous, further analyses will attempt to identify characteristics that distinguish untreated patients at high risk of developing AVN from those who are less likely to develop this serious complication. Disclosures Mistry: Genzyme Corporation: Honoraria, Research Funding. Deegan:Genzyme Corporation: Honoraria. Vellodi:Genzyme Corporation: Honoraria, Speakers Bureau. Cole:Genzyme Corporation: Employment. Yeh:Genzyme Corporation: Employment. Weinreb:Genzyme Corporation: Honoraria, Membership on an entity's Board of Directors or advisory committees.

Prospective multi-center national study to standardize the follow-up of type 1 Gaucher disease patients treated with eliglustat under standard of care practice: TRAZELGA project

2019 ◽  
Vol 126 (2) ◽  
pp. S22-S23
Author(s):  
Marcio M. Andrade-Campos ◽  
Jorge J. Cebolla ◽  
Laura Lopez de Frutos ◽  
Pilar Irun ◽  
Maria Soledad Noya ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Standard Of Care ◽  
National Study ◽  
Care Practice ◽  
Type 1 Gaucher Disease

scholarly journals A Prospective Study of Bone Marrow Hematopoietic and Mesenchymal Stem Cells in Type 1 Gaucher Disease Patients

PLoS ONE ◽  
2013 ◽  
Vol 8 (7) ◽  
pp. e69293 ◽  
Author(s):  
Séverine Lecourt ◽  
Enguerran Mouly ◽  
Delphine Freida ◽  
Audrey Cras ◽  
Raphaël Ceccaldi ◽  
...  
Keyword(s):  
Stem Cells ◽  
Bone Marrow ◽  
Mesenchymal Stem Cells ◽  
Prospective Study ◽  
Gaucher Disease ◽  
Type 1 Gaucher Disease ◽  
A Prospective Study
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