keyword
MENU ▼
Read by QxMD icon Read
search

Imiglucerase

keyword
https://www.readbyqxmd.com/read/28851512/reductions-in-glucosylsphingosine-lyso-gb1-in-treatment-na%C3%A3-ve-and-previously-treated-patients-receiving-velaglucerase-alfa-for-type-1-gaucher-disease-data-from-phase-3-clinical-trials
#1
Deborah Elstein, Björn Mellgard, Quinn Dinh, Lan Lan, Yongchang Qiu, Claudia Cozma, Sabrina Eichler, Tobias Böttcher, Ari Zimran
Gaucher disease (GD), an autosomal recessive lipid storage disorder, arises from mutations in the GBA1 (β-glucocerebrosidase) gene, resulting in glucosylceramide accumulation in tissue macrophages. Lyso-Gb1 (glucosylsphingosine, lyso-GL1), a downstream metabolic product of glucosylceramide, has been identified as a promising biomarker for the diagnosis and monitoring of patients with GD. This retrospective, exploratory analysis of data from phase 3 clinical trials of velaglucerase alfa in patients with type 1 GD evaluated the potential of lyso-Gb1 as a specific and sensitive biomarker for GD...
September 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28569047/transformation-in-pretreatment-manifestations-of-gaucher-disease-type-1-during-two-decades-of-alglucerase-imiglucerase-enzyme-replacement-therapy-in-the-international-collaborative-gaucher-group-icgg-gaucher-registry
#2
MULTICENTER STUDY
Pramod K Mistry, Julie L Batista, Hans C Andersson, Manisha Balwani, Thomas Andrew Burrow, Joel Charrow, Paige Kaplan, Aneal Khan, Priya S Kishnani, Edwin H Kolodny, Barry Rosenbloom, C Ronald Scott, Neal Weinreb
This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approved in the United States (US) in 1991. US alglucerase/imiglucerase-treated GD1 patients from the International Collaborative Gaucher Group Gaucher Registry clinicaltrials.gov NCT00358943 were stratified by age at ERT initiation (<18, 18 to <50, ≥50 years), era of ERT initiation (1991-1995, 1996-2000, 2001-2005, 2006-2009), and splenectomy status pre-ERT...
September 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28401966/stereodivergent-synthesis-of-right-and-left-handed-iminoxylitol-heterodimers-and-monomers-study-of-their-impact-on-%C3%AE-glucocerebrosidase-activity
#3
Fabien Stauffert, Jenny Serra-Vinardell, Marta Gómez-Grau, Helen Michelakakis, Irene Mavridou, Daniel Grinberg, Lluïsa Vilageliu, Josefina Casas, Anne Bodlenner, Antonio Delgado, Philippe Compain
A library of dimers and heterodimers of both enantiomers of 2-O-alkylated iminoxylitol derivatives has been synthesised and evaluated on β-glucocerebrosidase (GCase), the enzyme responsible for Gaucher disease (GD). Although the objective was to target simultaneously the active site and a secondary binding site of the glucosidase, the (-)-2-iminoxylitol moiety seemed detrimental for imiglucerase inhibition and no significant enhancement was obtained in G202R, N370S and L444P fibroblasts. However, all compounds having at least one (+)-2-O-alkyl iminoxylitol are GCase inhibitors in the nano molar range and are significant GCase activity enhancers in G202R fibroblats, as confirmed by a decrease of glucosylceramide levels and by co-localization studies...
May 3, 2017: Organic & Biomolecular Chemistry
https://www.readbyqxmd.com/read/28218669/a-review-of-gaucher-disease-pathophysiology-clinical-presentation-and-treatments
#4
REVIEW
Jérôme Stirnemann, Nadia Belmatoug, Fabrice Camou, Christine Serratrice, Roseline Froissart, Catherine Caillaud, Thierry Levade, Leonardo Astudillo, Jacques Serratrice, Anaïs Brassier, Christian Rose, Thierry Billette de Villemeur, Marc G Berger
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells...
February 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28207759/investigations-on-therapeutic-glucocerebrosidases-through-paired-detection-with-fluorescent-activity-based-probes
#5
Wouter W Kallemeijn, Saskia Scheij, Sascha Hoogendoorn, Martin D Witte, Daniela Herrera Moro Chao, Cindy P A A van Roomen, Roelof Ottenhoff, Herman S Overkleeft, Rolf G Boot, Johannes M F G Aerts
Deficiency of glucocerebrosidase (GBA) causes Gaucher disease (GD). In the common non-neuronopathic GD type I variant, glucosylceramide accumulates primarily in the lysosomes of visceral macrophages. Supplementing storage cells with lacking enzyme is accomplished via chronic intravenous administration of recombinant GBA containing mannose-terminated N-linked glycans, mediating the selective uptake by macrophages expressing mannose-binding lectin(s). Two recombinant GBA preparations with distinct N-linked glycans are registered in Europe for treatment of type I GD: imiglucerase (Genzyme), contains predominantly Man(3) glycans, and velaglucerase (Shire PLC) Man(9) glycans...
2017: PloS One
https://www.readbyqxmd.com/read/28167660/eliglustat-maintains-long-term-clinical-stability-in-patients-with-gaucher-disease-type-1-stabilized-on-enzyme-therapy
#6
RANDOMIZED CONTROLLED TRIAL
Timothy M Cox, Guillermo Drelichman, Renata Cravo, Manisha Balwani, Thomas Andrew Burrow, Ana Maria Martins, Elena Lukina, Barry Rosenbloom, Ozlem Goker-Alpan, Nora Watman, Amal El-Beshlawy, Priya S Kishnani, Maria Lucia Pedroso, Sebastiaan J M Gaemers, Regina Tayag, M Judith Peterschmitt
In the phase 3 Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE), at 1 year, eliglustat was noninferior to imiglucerase enzyme therapy in maintaining stable platelet counts, hemoglobin concentrations, and spleen and liver volumes. After this primary analysis period, patients entered a long-term extension phase in which all received eliglustat. Duration on eliglustat ranged from 2 to 5 years, depending on timing of enrollment (which spanned 2 years), treatment group to which patients were randomized, and whether they lived in the United States when commercial eliglustat became available...
April 27, 2017: Blood
https://www.readbyqxmd.com/read/28111116/patients-with-gaucher-type-1-switching-from-imiglucerase-to-miglustat-therapy
#7
Ebru Canda, Melis Kose, Mehtap Kagnici, Sema Kalkan Ucar, Eser Y Sozmen, Mahmut Coker
No abstract text is available yet for this article.
January 16, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28040394/long-term-hematological-visceral-and-growth-outcomes-in-children-with-gaucher-disease-type-3-treated-with-imiglucerase-in-the-international-collaborative-gaucher-group-gaucher-registry
#8
MULTICENTER STUDY
Amal El-Beshlawy, Anna Tylki-Szymanska, Ashok Vellodi, Nadia Belmatoug, Gregory A Grabowski, Edwin H Kolodny, Julie L Batista, Gerald F Cox, Pramod K Mistry
In Gaucher disease (GD), deficiency of lysosomal acid β-glucosidase results in a broad phenotypic spectrum that is classified into three types based on the absence (type 1 [GD1]) or presence and severity of primary central nervous system involvement (type 2 [GD2], the fulminant neuronopathic form, and type 3 [GD3], the milder chronic neuronopathic form). Enzyme replacement therapy (ERT) with imiglucerase ameliorates and prevents hematological and visceral manifestations in GD1, but data in GD3 are limited to small, single-center series...
January 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28003098/validating-glycoprotein-non-metastatic-melanoma-b-gpnmb-osteoactivin-a-new-biomarker-of-gaucher-disease
#9
Vagishwari Murugesan, Jun Liu, Ruhua Yang, Haiquin Lin, Andrew Lischuk, Gregory Pastores, Xiaokui Zhang, Wei-Lien Chuang, Pramod K Mistry
In the spleens of Gaucher disease mice and patients, there is a striking elevation of expression of glycoprotein non-Metastatic Melanoma B (gpNMB). We conducted a study in a large cohort of patients with Gaucher disease to assess the utility of serum levels of soluble fragment of gpNMB as a biomarker of disease activity. There was >15-fold elevation of gpNMB in sera of untreated patients with Gaucher disease. gpNMB levels correlated with overall disease severity as well as the severity of individual organ compartments: liver, spleen, bone and hematological disease...
December 13, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27829541/treatment-patterns-from-647-patients-with-gaucher-disease-an-analysis-from-the-gaucher-outcome-survey
#10
P Deegan, D Fernandez-Sasso, P Giraldo, H Lau, Z Panahloo, A Zimran
The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. For insight into how GD management varies among countries, we analyzed treatment patterns in GOS. As of October 30, 2015, data on GD-specific treatment (enzyme replacement therapy, substrate reduction therapy, or chemical chaperone therapy) received at any time were available for 647 patients. At analysis, velaglucerase alfa (316/573, 55...
October 20, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27821156/successful-switch-from-enzyme-replacement-therapy-to-miglustat-in-an-adult-patient-with-type-1-gaucher-disease-a-case-report
#11
Gaetano Giuffrida, Rita Lombardo, Ernesto Di Francesco, Laura Parrinello, Francesco Di Raimondo, Agata Fiumara
BACKGROUND: Gaucher disease is one of the most common lipid-storage disorders, affecting approximately 1 in 75,000 births. Enzyme replacement therapy with recombinant glucocerebrosidase is currently considered the first-line treatment choice for patients with symptomatic Gaucher disease type 1. Oral substrate reduction therapy is generally considered a second-line treatment option for adult patients with mild to moderate Gaucher disease type 1 who are unable or unwilling to receive lifelong intravenous enzyme infusions...
November 8, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27790078/imiglucerase-in-the-management-of-gaucher-disease-type-1-an-evidence-based-review-of-its-place-in-therapy
#12
REVIEW
Christine Serratrice, Sebastian Carballo, Jacques Serratrice, Jérome Stirnemann
INTRODUCTION: Gaucher disease is the first lysosomal disease to benefit from enzyme replacement therapy, thus serving as model for numerous other lysosomal diseases. Alglucerase was the first glucocerebrosidase purified from placental extracts, and this was then replaced by imiglucerase - a Chinese hamster ovary cell-derived glucocerebrosidase. AIM: The aim was to review the evidence underlying the use of imiglucerase in Gaucher disease type 1. EVIDENCE REVIEW: Data from clinical trials and Gaucher Registries were analyzed...
2016: Core Evidence
https://www.readbyqxmd.com/read/27722092/stability-is-maintained-in-adults-with-gaucher-disease-type-1-switched-from-velaglucerase-alfa-to-eliglustat-or-imiglucerase-a-sub-analysis-of-the-eliglustat-encore-trial
#13
Rebecca Pleat, Timothy M Cox, T Andrew Burrow, Pilar Giraldo, Ozlem Goker-Alpan, Barry E Rosenbloom, Laura R Croal, Lisa H Underhill, Sebastiaan J M Gaemers, M Judith Peterschmitt
Gaucher disease type 1 is an autosomal recessive disorder caused by deficient activity of the lysosomal enzyme acid β-glucosidase resulting in accumulation of glucosylceramide and clinical manifestations of anemia, thrombocytopenia, hepatosplenomegaly, and skeletal disease. The historic standard of care is intravenous recombinant enzyme therapy with imiglucerase. Eliglustat, an oral substrate reduction therapy, is a first-line treatment for adults with Gaucher disease type 1 who have a compatible CYP2D6-metabolizer phenotype (≈ 95% of patients)...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27574779/evaluation-of-bone-mineral-density-in-patients-with-type-1-gaucher-disease-in-argentina
#14
M S Larroudé, G Aguilar, I Rossi, G Drelichman, N Fernandez Escobar, N Basack, M Slago, A Schenone, A Fynn, M F Cuello, R Fernandez, A Ruiz, P Reichel, N Guelbert, H Robledo, N Watman, M Bolesina, G Elena, S E Veber, G Pujal, G Galvan, J J Chain, A Arizo, J Bietti, M Aznar, M Dragosky, M Marquez, L Feldman, K Muller, S Zirone, G Buchovsky, V Lanza, I Fernandez, R Jaureguiberry, M A Barbieri, A Maro, G Zarate, G Fernandez, M Rapetti, A Degano, G Kantor, A Albina, M Alvarez Bollea, H Arrocena, V Bacciedoni, F Del Rio
The purpose of this study was to evaluate the frequency of osteoporosis (OP) in patients with Gaucher disease (GD) in Argentina. GD patients from 28 centers were consecutively included from April 2012 to 2014. Bone mineral density (BMD) was determined by dual X-ray absorptiometry in the lumbar spine and the femoral neck or the total proximal femur for patients ≥20 yr of age, and by whole-body scan in the lumbar spine in patients <20 yr of age. In children, mineral density was calculated using the chronological age and Z height...
October 2016: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/27559188/enzyme-replacement-or-substrate-reduction-a-review-of-gaucher-disease-treatment-options
#15
Alison Van Rossum, Megan Holsopple
BACKGROUND: Gaucher disease is a rare lysosomal storage disease resulting from a deficiency or reduced activity in the acid β-glucocosidase enzyme. Only 1 treatment option was available for 15 years, but several new treatment options have come to market since 2003. OBJECTIVE: The article will detail the pathophysiology and review current therapies in the literature for all 3 major clinical types of Gaucher disease, with a focus on considerations for selecting therapy in type 1 disease...
July 2016: Hospital Pharmacy
https://www.readbyqxmd.com/read/27408819/clinical-response-to-eliglustat-in-treatment-na%C3%A3-ve-patients-with-gaucher-disease-type-1-post-hoc-comparison-to-imiglucerase-treated-patients-enrolled-in-the-international-collaborative-gaucher-group-gaucher-registry
#16
Jennifer Ibrahim, Lisa H Underhill, John S Taylor, Jennifer Angell, M Judith Peterschmitt
Eliglustat is a recently approved oral therapy in the United States and Europe for adults with Gaucher disease type 1 who are CYP2D6 extensive, intermediate, or poor metabolizers (> 90% of patients) that has been shown to decrease spleen and liver volume and increase hemoglobin concentrations and platelet counts in untreated adults with Gaucher disease type 1 and maintain these parameters in patients previously stabilized on enzyme replacement therapy. In a post-hoc analysis, we compared the results of eliglustat treatment in treatment-naïve patients in two clinical studies with the results of imiglucerase treatment among a cohort of treatment-naïve patients with comparable baseline hematologic and visceral parameters in the International Collaborative Gaucher Group Gaucher Registry...
September 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27334896/rare-case-of-hepatic-gaucheroma-in-a-child-on-enzyme-replacement-therapy
#17
Sophy Korula, Penny Owens, Amanda Charlton, Kaustuv Bhattacharya
BACKGROUND: We present a 6 year old boy with type I Gaucher treated from 16 months with ERT, developing focal Gaucheroma in the liver at 3.5 years. CASE: The subject presented at 13 months of age with anaemia, thrombocytopenia and hepatosplenomegaly. Gaucher disease was confirmed by leucocyte enzyme assay. A homozygous change: c.1193G>A (p.Arg398Gln) in the GBA gene was identified. He had normal neurology with normal saccades. Imiglucerase was administered at 60 IU/kg/fortnight from 15 months as per Australian regulations with good clinical response...
2017: JIMD Reports
https://www.readbyqxmd.com/read/27282565/development-of-anti-velaglucerase-alfa-antibodies-in-clinical-trial-treated-patients-with-gaucher-disease
#18
Gregory M Pastores, Hadhami Ben Turkia, Derlis E Gonzalez, Hiroyuki Ida, Azza A G Tantawy, Yulin Qin, Yongchang Qiu, Quinn Dinh, Ari Zimran
Anti-drug antibodies may develop with biological therapies, possibly leading to a reduction of treatment efficacy and to allergic and other adverse reactions. Patients with Gaucher disease were tested for anti-drug antibodies every 6 or 12weeks in clinical studies of velaglucerase alfa enzyme replacement therapy, as part of a range of safety endpoints. In 10 studies between April 2004 and March 2015, 289 patients aged 2-84years (median 43years) were assessed for the development of anti-velaglucerase alfa antibodies...
July 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27245534/interruption-of-enzyme-replacement%C3%A2-therapy-in-gaucher-disease
#19
J Goldblatt, J M Fletcher, J McGill, J Szer, M Wilson
In Australia, 58 patients with Gaucher disease were managed by a Gaucher Disease Advisory Committee (GDAC) through a centrally adminis-tered national programme, the Life Savings Drug Program (LSDP). In June 2009, Genzyme Corporation, which manufactures imiglucerase (Cerezyme), the only enzyme replacement therapy (ERT) registered for the treatment of Gaucher disease in Australia at that time, announced that due to a viral contamination problem there would be no further shipments of Cerezyme to Australia prior to the end of 2009...
May 25, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27241455/a-multicenter-open-label-extension-study-of-velaglucerase-alfa-in-japanese-patients-with-gaucher-disease-results-after-a-cumulative-treatment-period-of-24months
#20
Hiroyuki Ida, Akemi Tanaka, Tomoko Matsubayashi, Kei Murayama, Teruaki Hongo, Hak-Myung Lee, Björn Mellgard
Enzyme replacement therapy (ERT) with exogenous glucocerebrosidase is indicated to treat symptomatic Gaucher disease (GD), a rare, inherited metabolic disorder. ERT with velaglucerase alfa, which is produced in a human cell line using gene activation technology, was studied in a 12-month phase III trial in Japanese patients with type 1 or 3 GD who were switched from imiglucerase ERT (n=6); the current, open-label, 12-month extension study was designed to assess longer-term safety and efficacy. Two adult and three pediatric patients (aged <18years) were enrolled into the extension study...
July 2016: Blood Cells, Molecules & Diseases
keyword
keyword
93872
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"