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Type 1 Gauchers Disease

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1. 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

2. Eliglustat for treating type 1 Gaucher disease

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 (...) a responsibility to promote an environmentally sustainable health and care system and should assess and reduce the environmental impact of implementing NICE recommendations wherever possible. 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 2 of 44Contents Contents 1 Recommendations 4 2 The condition 5 3 The technology 6 4 Evidence submissions 7 Nature of the condition 7

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

3. Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial. (PubMed)

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

4. 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

5. 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. (PubMed)

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

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2017 American journal of hematology

6. 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.

7. 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 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 (...) reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3 (ELIKIDS) 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

2018 Clinical Trials

8. Clinical response to eliglustat in treatment-naïve patients with Gaucher disease type 1: Post-hoc comparison to imiglucerase-treated patients enrolled in the International Collaborative Gaucher Group Gaucher Registry (PubMed)

Clinical response to eliglustat in treatment-naïve patients with Gaucher disease type 1: Post-hoc comparison to imiglucerase-treated patients enrolled in the International Collaborative Gaucher Group Gaucher Registry 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

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2016 Molecular genetics and metabolism reports

9. 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. (PubMed)

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

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2018 BMC Medical Genetics

10. A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration. (PubMed)

A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration. Eliglustat, an oral substrate reduction therapy, is a first-line therapy for adults with Gaucher disease type 1 and a compatible CYP2D6 metabolizer phenotype. Clinicians have requested more information about frequency, timing, and duration of adverse events associated with eliglustat. Adverse event data as of January 31, 2013

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2018 Blood cells, molecules & diseases

11. A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report. (PubMed)

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

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2018 Medicine

12. Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports (PubMed)

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

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2018 Journal of medical case reports

13. 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

14. Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum (PubMed)

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

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2018 Molecular genetics and metabolism reports

15. Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1 (PubMed)

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

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2018 Therapeutics and clinical risk management

16. Outcomes after 8 Years of Eliglustat Therapy for Gaucher Disease Type 1: Final Results from the Phase 2 Trial. (PubMed)

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

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2018 American journal of hematology

17. 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 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 (...) of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3 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 Identifier: NCT03746587 Recruitment Status : Recruiting First Posted : November 19, 2018 Last Update Posted : November 26, 2018

2018 Clinical Trials

18. Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report. (PubMed)

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. Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment. (PubMed)

Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment. Gaucher disease (GD) is a lysosomal storage disorder characterized by the storage of glycosphingolipids in macrophages. Despite effective therapy, residual disease is present in varying degrees and may be associated with late complications, such as persistent bone or liver disease and increased cancer risk. Gaucher macrophages are capable of storing iron (...) and locations of residual disease may thus be detectable with iron imaging. Forty type 1 GD (GD1) patients and 40 matched healthy controls were examined using a whole-body magnetic resonance imaging protocol consisting of standard sequences, allowing analysis of iron content per organ, expressed as R2* (Hz). Median R2* values were significantly elevated in GD1 patients as compared to healthy controls in liver [41 Hz (range 29-165) vs. 38 Hz (range 28-53), P < 0·01], femoral bone marrow [54 Hz (range 37-129

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2017 British journal of haematology

20. Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S (PubMed)

Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S Gaucher disease is an autosomal recessive lysosomal storage disorder resulting from deficient glucocerebrosidase activity. More than 350 mutations that cause Gaucher disease have been described to date. Novel mutations can potentially provide insight into the glucocerebrosidase structure-function relationship and biochemical basis (...) of the disease. Here, we report the identification of two novel mutations in two unrelated patients with type I (non-neuronopathic) Gaucher disease: 1) a splice site mutation IVS9 + 1G > A; and (2) a complex allele (cis) G355R/R359X. Both patients have a common N370S mutation in the other allele. The splice site mutation results from an intronic base substitution (G to A, c.1328 + 1, g.5005) at the donor splice site of exon and intron 9. The complex allele results from two point mutations in exon 8

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2016 Meta gene

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