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1. Enzyme Replacement Therapy and Eliglustat for Gaucher Disease Type 1: Guidelines

Enzyme Replacement Therapy and Eliglustat for Gaucher Disease Type 1: Guidelines Enzyme Replacement Therapy and Eliglustat for Gaucher Disease Type 1: Guidelines | CADTH.ca Find the information you need Enzyme Replacement Therapy and Eliglustat for Gaucher Disease Type 1: Guidelines Enzyme Replacement Therapy and Eliglustat for Gaucher Disease Type 1: Guidelines Last updated: September 23, 2019 Project Number: RA1073-000 Product Line: Research Type: Drug Report Type: Reference List Result type (...) : Report Question What are the evidence-based guidelines for prescribing enzyme replacement therapies (ERT) and eliglustat in Gaucher disease Type 1? Key Message No evidence-based guidelines were identified regarding prescribing ERT and eliglustat in Gaucher disease Type 1. Files Rapid Response Reference List Published : September 23, 2019 Follow us: © 2019 Canadian Agency for Drugs and Technologies in Health Get our newsletter:

2019 Canadian Agency for Drugs and Technologies in Health - Rapid Review

2. Eliglustat (Cerdelga) - Gaucher disease type 1 (GD1)

Eliglustat (Cerdelga) - Gaucher disease type 1 (GD1) Search Page - Drug and Health Product Register Language selection Search and menus Search Search website Search Topics menu You are here: Summary Basis of Decision - - Health Canada Expand all Summary Basis of Decision (SBD) for Contact: Summary Basis of Decision (SBD) documents provide information related to the original authorization of a product. The for is located below. Recent Activity for SBDs written for approved after September 1 (...) (PAAT) RowNum Activity/submission type, control number Date submitted Decision and date Summary of activities Summary Basis of Decision (SBD) for Date SBD issued: The following information relates to the new drug submission for . Drug Identification Number (DIN): 1 What was approved? 2 Why was approved? 3 What steps led to the approval of ? Submission Milestones: Submission Milestone Date 4 What follow-up measures will the company take? 5 What post-authorization activity has taken place for ? 6 What

2018 Health Canada - Drug and Health Product Register

3. Eliglustat for treating type 1 Gaucher disease

metabolisers. Eliglustat is only recommended when the company provides it with the discount agreed in the patient access scheme. Eliglustat for treating type 1 Gaucher disease (HST5) © NICE 2018. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 4 of 442 2 The condition The condition 2.1 Gaucher disease is an inherited lysosomal storage disorder. It is caused by deficiency of the enzyme glucocerebrosidase. This deficiency leads (...) Eliglustat for treating type 1 Gaucher disease Eliglustat for treating type 1 Gaucher Eliglustat for treating type 1 Gaucher disease disease Highly specialised technologies guidance Published: 28 June 2017 nice.org.uk/guidance/hst5 © NICE 2018. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and-conditions#notice-of- rights).Y Y our responsibility our responsibility The recommendations in this guidance represent the view of NICE, arrived at after careful

2017 National Institute for Health and Clinical Excellence - Highly specialised technology

4. Eliglustat (Cerdelga) - for the long-term treatment of adult patients with Gaucher disease type 1

Eliglustat (Cerdelga) - for the long-term treatment of adult patients with Gaucher disease type 1 Cost-effectiveness of eliglustat (Cerdelga®) for the for the long-term treatment of adult patients with Gaucher disease type 1 (GD1), who are CYP2D6 poor metabolisers (PMs), intermediate metabolisers (IMs) or extensive metabolisers (EMs) The NCPE has issued a recommendation regarding the cost-effectiveness of eliglustat (Cerdelga®). The NCPE recommends that eliglustat (Cerdelga ®) should (...) treatments for patients. Our advice is for consideration by anyone who has a responsibility for commissioning or providing healthcare, public health or social care services. National Centre for Pharmacoeconomics April 2018 Summary In May 2017, Sanofi Genzyme submitted a pharmacoeconomic assessment to the National Centre for Pharmacoeconomics (NCPE) to support the use of eliglustat (Cerdelga ®) for the long-term treatment of adult patients with Gaucher disease type 1 (GD1), who are CYP2D6 poor

2018 Pediatric Endocrine Society

5. Eliglustat (Cerdelga) for Gaucher disease type 1

Eliglustat (Cerdelga) for Gaucher disease type 1 Eliglustat (Cerdelga) for Gaucher disease type 1 Eliglustat (Cerdelga) for Gaucher disease type 1 HAYES, Inc. Record Status This is a bibliographic record of a published health technology assessment. No evaluation of the quality of this assessment has been made for the HTA database. Citation HAYES, Inc.. Eliglustat (Cerdelga) for Gaucher disease type 1. Lansdale: HAYES, Inc.. Healthcare Technology Brief Publication. 2015 Final publication URL (...) The report may be purchased from: Indexing Status Subject indexing assigned by CRD MeSH Enzyme Inhibitors; Gaucher Disease; Humans; Pyrrolidines Language Published English Country of organisation United States English summary An English language summary is available. Address for correspondence HAYES, Inc., 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218 Email: hayesinfo@hayesinc.com AccessionNumber 32016000083 Date abstract record published 27/01/2016 Health

2015 Health Technology Assessment (HTA) Database.

6. Velaglucerase alfa (VPRIV) - for long-term enzyme replacement therapy in patients with type 1 Gaucher disease

Velaglucerase alfa (VPRIV) - for long-term enzyme replacement therapy in patients with type 1 Gaucher disease Final Appraisal Recommendation Advice No: 1214 – June 2014 Velaglucerase alfa (VPRIV ® ) 400 units powder for solution for infusion Submission by Shire Pharmaceuticals Ltd In reaching the above recommendation AWMSG has taken account of the appraisal documentation prepared by the AWMSG Secretariat (reference number 571), which includes the AWMSG Secretariat Assessment Report (ASAR (...) of this recommendation may be reproduced without the whole recommendation being quoted in full and cited as: All Wales Medicines Strategy Group. Final Appraisal Recommendation – 1214: Velaglucerase alfa (VPRIV ® ) 400 units powder for solution for infusion. June 2014. Recommendation of AWMSG Velaglucerase alfa (VPRIV ® ) is recommended as an option for use within NHS Wales for long-term enzyme replacement therapy in patients with type 1 Gaucher disease. This recommendation applies only in circumstances where

2014 All Wales Medicines Strategy Group

7. CERDELGA (eliglustat), metabolism medicinal product - type 1 Gaucher's disease

CERDELGA (eliglustat), metabolism medicinal product - type 1 Gaucher's disease CERDELGA SUMMARY CT14208

2016 Haute Autorite de sante

8. Cerdelga (eliglustat) - For the long-term treatment of adult patients with the Type 1 form of Gaucher disease

Cerdelga (eliglustat) - For the long-term treatment of adult patients with the Type 1 form of Gaucher disease Drug Approval Package: Brand Name (Generic Name) NDA # Drug Approval Package U.S. Food & Drug Administration Search FDA Drug Approval Package - Cerdelga (eliglustat) Capsules Company: Genzyme Corporation Application No.: 205494 Approval Date: 8/19/2014 Persons with disabilities having problems accessing the PDF files below may call (301) 796-3634 for assistance. (PDF) (PDF) (PDF) (PDF (...) , MD 20993 Ph. 1-888-INFO-FDA (1-888-463-6332) Links on this page:

2014 FDA - Drug Approval Package

9. Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3

patients (≥2 to <18 years old). Condition or disease Intervention/treatment Phase Gaucher's Disease Type I Gaucher's Disease Type III Drug: Eliglustat GZ385660 Drug: Imiglucerase GZ437843 Phase 3 Detailed Description: The study will include a screening period of up to 60 days (Day -60 to -1), a primary analysis treatment period (Day 1 to Week 52) and a long-term treatment period (Week 53 to Week 104). After study completion, patients will be encouraged to enroll in the International Collaborative (...) Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3 Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3 - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have

2018 Clinical Trials

10. Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial. Full Text available with Trip Pro

Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial. Eliglustat is a first-line oral therapy for adults with Gaucher disease type 1 (GD1) with compatible CYP2D6-metabolizer phenotypes (>90% of patients). The randomized, double-blind EDGE trial (NCT01074944, Sanofi Genzyme) evaluated once-daily eliglustat dosing compared with the approved twice-daily regimen at the same total daily dose in adults with GD1. Subjects

2019 Molecular genetics and metabolism Controlled trial quality: predicted high

11. Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum Full Text available with Trip Pro

Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum Gaucher disease (GD) is an autosomal recessive condition that results from a deficiency of the enzyme β-glucocerebrosidase. The increased risk of primary parkinsonism symptoms among individuals affected with GD and carriers for the disorder is well-documented in the literature. However, these risks and case reports often reflect patients with classical Parkinson's disease (PD (...) ) symptoms. We report a patient with GD type 1 who was diagnosed with corticobasal syndrome (CBS), a clinical atypical parkinsonism diagnosis, in his sixth decade of life. Our case highlights the need to consider forms of atypical parkinsonism such as CBS in addition to PD in the differential diagnosis of cognitive and motor changes in patients with GD type 1. We also recommend careful assessment and routine monitoring of cognition, mood, behavior, sleep patterns, olfaction, and memory in patients

2018 Molecular genetics and metabolism reports

12. Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India. Full Text available with Trip Pro

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India. Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells' lysosomes. A beta-Glucosidase (GBA) gene defect results in glucocerebrosidase enzyme deficiency. Though the disease is mainly diagnosed in childhood, the adult (...) patients' initial screening for the common Gaucher mutation (Leu444Pro). Later, all patients were subjected to whole GBA gene coding region study using bidirectional Sanger sequencing. The population screening for common Gaucher disease mutation (Leu444Pro) was executed in 1200 unrelated and healthy Indian subjects by Restriction Fragment Length Polymorphism-Polymerase Chain Reaction technique. The allele frequency was calculated using Hardy-Weinberg formula.The biochemical analysis revealed

2018 BMC Medical Genetics

13. Transformation in Pre-treatment Manifestations of Gaucher Disease Type 1 during Two Decades of Alglucerase/Imiglucerase Enzyme Replacement Therapy in the International Collaborative Gaucher Group (ICGG) Registry. Full Text available with Trip Pro

Transformation in Pre-treatment Manifestations of Gaucher Disease Type 1 during Two Decades of Alglucerase/Imiglucerase Enzyme Replacement Therapy in the International Collaborative Gaucher Group (ICGG) Registry. 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. Prevalence of splenectomy decreased dramatically across the eras among all age groups. Bone manifestations were more prevalent in splenectomized patients than non-splenectomized

2017 American journal of hematology

14. Outcomes after 8 Years of Eliglustat Therapy for Gaucher Disease Type 1: Final Results from the Phase 2 Trial. Full Text available with Trip Pro

Outcomes after 8 Years of Eliglustat Therapy for Gaucher Disease Type 1: Final Results from the Phase 2 Trial. Eliglustat is a first-line oral therapy for adults with Gaucher disease type 1 (GD1) and poor, intermediate or extensive CYP2D6-metabolizer phenotypes (>90% of patients). We report the final results of a Phase 2 trial and extension (NCT00358150) in previously untreated adult GD1 patients who had splenomegaly with thrombocytopenia and/or anemia and received 50 or 100 mg eliglustat (...) -to-severe anemia (n = 6), or severe thrombocytopenia (n = 8) were similar to patients with milder disease at baseline and within long-term therapeutic goal thresholds. Biomarker median percent changes from baseline were -91% for chitotriosidase, -87% for CCL18, -92% for glucosylsphingosine, and -80% for plasma glucosylceramide. Mean lumbar spine T-score increased by 0.96, moving from the osteopenic to the normal range. Mean quality-of-life scores, mostly below normal at baseline, moved into ranges seen

2018 American journal of hematology

15. A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report. Full Text available with Trip Pro

A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report. Gaucher disease (GD) is an autosomal recessive disorder that leads to multiorgan complications caused by β-glucocerebrosidase deficiency due to mutations in the β-glucocerebrosidase-encoding gene (GBA). GD morbidity in Japan is quite rare and clinical phenotype and gene mutation patterns of patients with GD in Japan and Western countries differ considerably. Of Japanese patients (...) manifestations, the final diagnosis of type 1 GD was made.Enzyme replacement therapy (ERT) with velaglucerase α was started after the diagnosis of type 1 GD.The patient's β-glucocerebrosidase activity as well as hemoglobin and platelet levels were restored by ERT without any side effects. Bone marrow aspirations 10 months after the start of the treatment with velaglucerase α showed reduction of Gaucher cells in bone marrow to 2% from 4% of total cellularity.This is the first report of F-FDG PET/CT

2018 Medicine

16. Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3

See Sponsor: Orphazyme Information provided by (Responsible Party): Orphazyme Study Details Study Description Go to Brief Summary: Multicenter, doubleblinded, randomized placebo-controlled study of arimoclomol in patients with Gaucher Disease Type 1 or 3 Condition or disease Intervention/treatment Phase Gaucher Disease, Type 1 Gaucher Disease, Type 3 Drug: Arimoclomol Drug: Placebo oral capsule Phase 2 Detailed Description: Evaluating the response of 3 dose levels of arimoclomol on various (...) Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3 Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3 - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Study

2018 Clinical Trials

17. Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease

Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved (...) studies (100). Please remove one or more studies before adding more. Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov

2018 Clinical Trials

18. Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report. Full Text available with Trip Pro

Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report. Gaucher disease (GD), characterized by glucosylceramide accumulation in the macrophage-monocyte system, is caused by glucosidase b acid (GBA) gene mutations which lead to the deficiency of lysosomal enzyme glucocerebrosidase. The mutation spectrum of GBA in Chinese patients is quite different from those seen in Jewish and non-Jewish Caucasian patients. Thus, it is relatively hard to diagnose GD (...)  > A).On the basis of these findings and clinical manifestations, the final diagnosis of type 1 GD was made.Enzyme replacement therapy (ERT) with velaglucerase α was carried out after the diagnosis of type 1 GD.The platelet and hemoglobin levels were restored by ERT.To our knowledge, this is the first report of GD patient carrying 3 mutations in Chinese. These mutations in GBA in the present case imply a potential pool of patients with GD with this mutation in Chinese.

2018 Medicine

19. Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1 Full Text available with Trip Pro

Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1 Osteopathy/osteoporosis in Gaucher disease type 1 (GD1) shows variable responses to enzyme replacement therapy (ERT); the pathogenesis is incompletely understood. We aimed to investigate the effects of several gene variants on bone mineral density (BMD) and serum markers of bone metabolism in GD1.Fifty adult Caucasian patients

2018 Therapeutics and clinical risk management

20. Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports Full Text available with Trip Pro

Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports Intravenous enzyme replacement therapy is a first-line therapy for Gaucher disease type 1, and substrate reduction therapy represents an oral treatment alternative. Both enzyme replacement therapy and substrate reduction therapy are generally used as monotherapies in Gaucher disease. However, one randomized study and several case reports have described combination therapy over short (...) time periods.We report two female Gaucher disease type 1 patients of mainly Anglo-Saxon descent, where combined enzyme replacement therapy and miglustat substrate reduction therapy were administered to overcome refractory clinical symptoms. The first patient was diagnosed at age 17 and developed Gaucher disease-related bone manifestations that worsened despite starting imiglucerase enzyme replacement therapy. After switching to miglustat substrate reduction therapy, her bone symptoms improved

2018 Journal of medical case reports

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