scholarly journals PF428 GLUCOSYLSPHINGOSINE (LYSO-GL-1), A BIOMARKER OF GAUCHER DISEASE, CORRELATES WITH DISEASE SEVERITY AND RESPONSE TO ELIGLUSTAT IN 2 CLINICAL TRIALS OF TREATMENT-NAÏVE ADULTS WITH GAUCHER DISEASE TYPE 1

HemaSphere ◽  
2019 ◽  
Vol 3 (S1) ◽  
pp. 167-168
Author(s):  
M.J. Peterschmitt ◽  
M. Foster ◽  
K. Zhang ◽  
C. Gerald
Keyword(s):  
Clinical Trials ◽  
Disease Severity ◽  
Gaucher Disease ◽  
Disease Type ◽  
Treatment Naïve ◽  
Gaucher Disease Type 1

Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients

2018 ◽  
Vol 123 (3) ◽  
pp. 357-363 ◽  
Author(s):  
Suraj D. Serai ◽  
Anjani P. Naidu ◽  
T. Andrew Burrow ◽  
Carlos E. Prada ◽  
Stavra Xanthakos ◽  
...  
Keyword(s):  
Disease Severity ◽  
Scoring System ◽  
Gaucher Disease ◽  
Liver Stiffness ◽  
Disease Type ◽  
Severity Scoring ◽  
Gaucher Disease Type 1

Individual patient responses to eliglustat in treatment-naïve adults with Gaucher disease type 1: Final data from the phase 3 ENGAGE trial

2020 ◽  
Vol 129 (2) ◽  
pp. S110-S111
Author(s):  
Pramod K. Mistry ◽  
Elena Lukina ◽  
Hadhami Ben Turkia ◽  
Suma Shankar ◽  
Hagit Baris Feldman ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Phase 3 ◽  
Final Data ◽  
Treatment Naïve ◽  
Gaucher Disease Type 1 ◽  
Patient Responses

scholarly journals 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

2018 ◽  
Vol 68 ◽  
pp. 185-191 ◽  
Author(s):  
M. Judith Peterschmitt ◽  
Gerald F. Cox ◽  
Jennifer Ibrahim ◽  
James MacDougall ◽  
Lisa H. Underhill ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Adverse Events ◽  
Gaucher Disease ◽  
Pooled Analysis ◽  
Disease Type ◽  
Gaucher Disease Type 1

148. A validated disease severity scoring system for gaucher disease type 1

2009 ◽  
Vol 96 (2) ◽  
pp. S45
Author(s):  
Neal Weinreb ◽  
Maria Cappellini ◽  
Timothy Cox ◽  
Edward Giannini ◽  
Gregory Grabowski ◽  
...  
Keyword(s):  
Disease Severity ◽  
Scoring System ◽  
Gaucher Disease ◽  
Disease Type ◽  
Severity Scoring ◽  
Gaucher Disease Type 1

scholarly journals Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial

2017 ◽  
Vol 92 (11) ◽  
pp. 1170-1176 ◽  
Author(s):  
Pramod K. Mistry ◽  
Elena Lukina ◽  
Hadhami Ben Turkia ◽  
Suma P. Shankar ◽  
Hagit Baris ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Phase 3 ◽  
Treatment Naïve ◽  
Gaucher Disease Type 1

scholarly journals Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trials

JIMD Reports ◽  
2020 ◽  
Author(s):  
Elena Lukina ◽  
Manisha Balwani ◽  
Nadia Belmatoug ◽  
Nora Watman ◽  
Derralynn Hughes ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Pregnancy Outcome ◽  
Gaucher Disease ◽  
Disease Type ◽  
Unplanned Pregnancies ◽  
Gaucher Disease Type 1

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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