scholarly journals A Quantitative Systems Pharmacology Model of Gaucher Disease Type 1 Provides Mechanistic Insight Into the Response to Substrate Reduction Therapy With Eliglustat

2020 ◽  
Vol 9 (7) ◽  
pp. 374-383 ◽  
Author(s):  
Ruth Abrams ◽  
Chanchala D. Kaddi ◽  
Mengdi Tao ◽  
Randolph J. Leiser ◽  
Giulia Simoni ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Substrate Reduction Therapy ◽  
Systems Pharmacology ◽  
Quantitative Systems Pharmacology ◽  
Substrate Reduction ◽  
Mechanistic Insight ◽  
Gaucher Disease Type 1 ◽  
Insight Into

Biomarker responses to eliglustat, an investigational oral substrate reduction therapy (SRT) for Gaucher disease type 1 (GD1)

2013 ◽  
Vol 108 (2) ◽  
pp. S74
Author(s):  
M. Judith Peterschmitt ◽  
Elena Lukina ◽  
Nora Watman ◽  
Marta Dragosky ◽  
Gregory Pastores ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Substrate Reduction Therapy ◽  
Substrate Reduction ◽  
Gaucher Disease Type 1

Role of a specialist nurse in starting substrate reduction therapy in Gaucher disease type 1: One centre experience

2020 ◽  
Vol 129 (2) ◽  
pp. S58
Author(s):  
Stuart Forshaw-Hulme ◽  
Janet Gorton ◽  
Tracey Mcgrae ◽  
Faiza Adrees ◽  
Gisela Wilcox ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Substrate Reduction Therapy ◽  
Specialist Nurse ◽  
Substrate Reduction ◽  
Gaucher Disease Type 1

scholarly journals A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1

Blood ◽  
2010 ◽  
Vol 116 (6) ◽  
pp. 893-899 ◽  
Author(s):  
Elena Lukina ◽  
Nora Watman ◽  
Elsa Avila Arreguin ◽  
Maryam Banikazemi ◽  
Marta Dragosky ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Substrate Reduction Therapy ◽  
Phase 2 ◽  
Mineral Density ◽  
Substrate Reduction ◽  
Drug Concentrations ◽  
Phase 2 Study ◽  
Gaucher Disease Type 1

Abstract Eliglustat tartrate (Genz-112638), a specific inhibitor of glucosylceramide synthase, is under development as an oral substrate reduction therapy for Gaucher disease type 1 (GD1). A multinational, open-label, single-arm phase 2 study of 26 GD1 patients (16 female, 10 male; mean age, 34 years) evaluated the efficacy, safety, and pharmacokinetics of eliglustat tartrate administered twice daily by mouth at 50- or 100-mg doses based on plasma drug concentrations. Entry criteria required splenomegaly with thrombocytopenia and/or anemia. The composite primary efficacy end point required improvement after 52 weeks in at least 2 of these 3 disease manifestations and was met by 77% (95% confidence interval [CI] = 58%-89%) of all patients and 91% (95% CI = 72%-98%) of the 22 patients completing 52 weeks. Statistically significant improvements occurred in mean hemoglobin level (1.62 g/dL; 95% CI =1.05-2.18 g/dL), platelet count (40.3%; 95% CI = 23.7-57.0 g/dL), spleen volume (−38.5%; 95% CI = −43.5%-−33.5%), liver volume (−17.0%; 95% CI = −21.6%-12.3%), and lumbar spine bone mineral density (0.31 Z-score; 95% CI = 0.09-0.53). Elevated biomarkers (chitotriosidase; chemokine CCL18; angiotensin-converting enzyme; tartrate-resistant acid phosphatase) decreased by 35% to 50%. Plasma glucosylceramide and ganglioside GM3 normalized. Eliglustat tartrate was well tolerated: 7 mild, transient adverse events in 6 patients were considered treatment-related. Individual pharmacokinetics varied; mean time to maximal observed concentration was 2.3 hours and mean half-life was 6.8 hours. Eliglustat tartrate appears to be a promising oral treatment for GD1. This study is registered at www.clinicaltrials.gov as #NCT00358150.

Transition to eliglustat in an individual with Gaucher disease type 1 on antipsychotic medication

2021 ◽  
Vol 132 (2) ◽  
pp. S80
Author(s):  
Damara Ortiz ◽  
Joshua Barch ◽  
Kayla Segady ◽  
Nadene Henderson
Keyword(s):  
Antipsychotic Medication ◽  
Gaucher Disease ◽  
Disease Type ◽  
Gaucher Disease Type 1

scholarly journals Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study)

Diagnostics ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 989
Author(s):  
Cecilia Lazea ◽  
Simona Bucerzan ◽  
Camelia Al-Khzouz ◽  
Anca Zimmermann ◽  
Ștefan Cristian Vesa ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Cardiac Involvement ◽  
Disease Type ◽  
Clinical Onset ◽  
Lysosomal Disorders ◽  
Electrocardiographic Changes ◽  
Gaucher Disease Type 1 ◽  
And Function ◽  
Cardiac Manifestations

Gaucher disease (GD), one of the most common lysosomal disorders, is characterised by clinical heterogeneity. Cardiac involvement is rare and refers to pulmonary hypertension (PH), valvular abnormalities and myocardial infiltrative damage. The aim of this study was to evaluate cardiac involvement in a group of Romanian GD patients. Phenotypic and genotypic characterisation was carried out in 69 patients with GD type 1. Annual echocardiography and electrocardiography were performed to assess pulmonary pressure, morphology and function of the valves and electrocardiographic changes. Nine patients (13%) exhibited baseline echocardiographic signs suggesting PH. Mitral regurgitation was present in 33 patients (48%) and aortic regurgitation in 11 patients (16%). One patient presented aortic stenosis. Significant valvular dysfunction was diagnosed in 10% of patients. PH was associated with greater age (p < 0.001), longer time since splenectomy (p = 0.045) and longer time between clinical onset and the start of enzyme replacing therapy (p < 0.001). Electrocardiographic changes were present in five patients (7%).

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