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https://www.readbyqxmd.com/read/27829541/treatment-patterns-from-647-patients-with-gaucher-disease-an-analysis-from-the-gaucher-outcome-survey
#1
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
#2
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
#3
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
#4
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
#5
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...
August 26, 2016: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/27559188/enzyme-replacement-or-substrate-reduction-a-review-of-gaucher-disease-treatment-options
#6
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
#7
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
#8
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...
June 23, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27282565/development-of-anti-velaglucerase-alfa-antibodies-in-clinical-trial-treated-patients-with-gaucher-disease
#9
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
#10
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...
June 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
#11
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
https://www.readbyqxmd.com/read/27102949/enzyme-replacement-therapy-with-taliglucerase-alfa-36-month-safety-and-efficacy-results-in-adult-patients-with-gaucher-disease-previously-treated-with-imiglucerase
#12
Gregory M Pastores, Suma P Shankar, Milan Petakov, Pilar Giraldo, Hanna Rosenbaum, Dominick J Amato, Jeffrey Szer, Raul Chertkoff, Einat Brill-Almon, Ari Zimran
Taliglucerase alfa is the first available plant cell-expressed human recombinant therapeutic protein. It is indicated for treatment of patients with type 1 Gaucher disease (GD) in adult and pediatric patients in several countries. Study PB-06-002 examined the safety and efficacy of taliglucerase alfa for 9 months in patients who previously received imiglucerase. The results of adult patients from Study PB-06-002 who continued receiving taliglucerase alfa in extension Study PB-06-003 for up to 36 months are reported here...
July 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27083470/cellular-uptake-of-glucocerebrosidase-in-gaucher-patients-receiving-enzyme-replacement-treatment
#13
Elena Gras-Colomer, María Amparo Martínez-Gómez, Ana Moya-Gil, Miguel Fernandez-Zarzoso, Matilde Merino-Sanjuan, Mónica Climente-Martí
BACKGROUND: Enzyme replacement therapy (ERT) is currently the standard treatment for patients with Gaucher disease type I (GD1), but the pharmacokinetics have hardly been studied. This study aimed to quantify in vivo enzyme activity in peripheral leukocytes from patients receiving long-term treatment with imiglucerase or velaglucerase for GD1, and set out to assess the process of enzymatic uptake by peripheral leukocytes. METHODS: A prospective semi-experimental study was conducted...
September 2016: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/26757299/lung-transplantation-in-gaucher-disease-a-learning-lesson-in-trying-to-avoid-both-scylla-and-charybdis
#14
Geertje M de Boer, Laura van Dussen, Leon M van den Toorn, Michael A den Bakker, Rogier A S Hoek, Dennis A Hesselink, Carla E M Hollak, Peter Th W van Hal
Gaucher disease (GD), a lysosomal storage disorder, may result in end-stage lung disease. We report successful bilateral lung transplantation in a 49-year-old woman with GD complicated by severe pulmonary hypertension and fibrotic changes in the lungs. Before receiving the lung transplant, the patient was undergoing both enzyme replacement therapy (imiglucerase) and triple pulmonary hypertension treatment (epoprostenol, bosentan, and sildenafil). She had a history of splenectomy, severe bone disease, and renal involvement, all of which were related to GD and considered as relative contraindications for a lung transplantation...
January 2016: Chest
https://www.readbyqxmd.com/read/26384672/eliglustat-a-review-in-gaucher-disease-type-1
#15
REVIEW
Lesley J Scott
Oral eliglustat (Cerdelga®) is approved in several countries for the long-term treatment of adults with Gaucher disease type 1 (GD1) who are cytochrome P450 (CYP) 2D6 extensive metabolizers (EMs), intermediate metabolizer (IMs) or poor metabolizers (PMs) [these three CYP categories encompass >90 % of individuals]. Eliglustat is a potent, selective inhibitor of glucosylceramide synthase, the rate-limiting enzyme in the synthesis of certain glycosphingolipids, and thus, reduces the rate of biosynthesis of glycosphingolipids to counteract the catabolic defect (i...
September 2015: Drugs
https://www.readbyqxmd.com/read/26200566/evaluation-of-bone-marrow-infiltration-in-non-neuropathic-gaucher-disease-patients-with-use-of-whole-body-mri-a-retrospective-data-analysis
#16
K Laudemann, L Moos, K E Mengel, A Lollert, J Reinke, M Brixius-Huth, D Wagner, C Düber, G Staatz
PURPOSE: To evaluate whole-body magnetic resonance imaging (WB-MRI) for the assessment of bone marrow infiltration in patients with confirmed Gaucher disease type 1 under long-term enzyme replacement therapy (ERT). MATERIALS AND METHODS: This retrospective data analysis included 38 patients in two subgroups. Group A: 10 females, 9 males, 15-29 years, mean age 22 years and Group B: 11 females, 8 males, 29-77 years, mean age 49 years, all treated with alglucerase or imiglucerase for at least 12...
December 2015: RöFo: Fortschritte Auf Dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
https://www.readbyqxmd.com/read/26100396/switching-from-imiglucerase-to-miglustat-for-the-treatment-of-french-patients-with-gaucher-disease-type-1-a-case-series
#17
Christine Serratrice, Laure Swiader, Jacques Serratrice
INTRODUCTION: Gaucher disease is caused by a deficiency of the enzyme β-glucocerebrosidase. Treatment with enzyme replacement therapy has been available for the past two decades but, although effective, enzyme replacement therapy can be delivered only by intravenous infusion every other week. The oral substrate reduction therapy miglustat (Zavesca®) has been available in Europe since 2002 for the treatment of patients with mild or moderate Gaucher disease type 1 for whom enzyme replacement therapy is unsuitable or not a therapeutic option...
June 23, 2015: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/26068040/the-effects-of-chemically-synthesized-saposin-c-on-glucosylceramide-%C3%AE-glucosidase
#18
Azusa Yoneshige, Masanaga Muto, Takashi Watanabe, Hironobu Hojo, Junko Matsuda
OBJECTIVE: Saposin C (SAP-C) is an essential activator of glucosylceramide (GlcCer)-β-glucosidase (GCase), the enzyme deficient in Gaucher's disease. In this study, we investigated the effects of chemically synthesized SAP-Cs (synthetic SAP-Cs) on GCase. METHODS: Enzymatic assays and western blot analyses were carried out to evaluate the effects of two kinds of synthetic SAP-Cs, a non-glycosylated form and a N-glycosylated form bearing a complex type nonasaccharide, on GCase with respect to its activation, stabilization, and protection...
November 2015: Clinical Biochemistry
https://www.readbyqxmd.com/read/26043810/long-term-velaglucerase-alfa-treatment-in-children-with-gaucher-disease-type-1-na%C3%A3-ve-to-enzyme-replacement-therapy-or-previously-treated-with-imiglucerase
#19
MULTICENTER STUDY
Laurie Smith, William Rhead, Joel Charrow, Suma P Shankar, Ashish Bavdekar, Nicola Longo, Rebecca Mardach, Paul Harmatz, Thomas Hangartner, Hak-Myung Lee, Eric Crombez, Gregory M Pastores
BACKGROUND: Gaucher Disease type 1 (GD1) often manifests in childhood. Early treatment with enzyme replacement therapy (ERT) may prevent disease complications. We report the assessment of velaglucerase alfa ERT in pediatric GD1 patients who participated in a long-term extension study (HGT-GCB-044, ClinicalTrials.gov Identifier NCT00635427). METHODS: Safety and efficacy were evaluated in pediatric patients receiving velaglucerase alfa 30-60U/kg by intravenous infusion every other week...
February 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/25968608/impact-of-imiglucerase-supply-constraint-on-the-therapeutic-management-and-course-of-disease-in-french-patients-with-gaucher-disease-type-1
#20
Jérôme Stirnemann, Christian Rose, Christine Serratrice, Florence Dalbies, Olivier Lidove, Agathe Masseau, Yves-Marie Pers, Camille Baron, Nadia Belmatoug
BACKGROUND: In 2009, a worldwide supply constraint of imiglucerase led to treatment modifications or interruptions for patients with Gaucher disease (GD) type 1. In France, joint treatment recommendations were issued to protect the most vulnerable patients. This observational study evaluated the impact of imiglucerase treatment modifications on the clinical and biological course of GD. METHODS: Retrospective data on patients' characteristics, treatment, clinical and biological parameters from 01 June 2009 to 31 October 2010 were collected during a single visit...
May 13, 2015: Orphanet Journal of Rare Diseases
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