Rare Diseases

Current bibliography for experts

"Glucosylsphingosine" search results...

GAUCHER

Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy

2023-04-03

This is a comprehensive study regarding the two most disease-specific biomarkers, glucosylsphingosine (Lyso-Gb1) and α-synuclein for Gaucher disease (GD) and Parkinson's disease (PD), respectively.

GAUCHER

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

2022-01-30

A paradigm change may be considered for the diagnosis of Gaucher disease based on lyso-Gb1 measurements and confirmatory GBA1 mutation analyses in dried blood spot.

GAUCHER

Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results

2021-06-23

During 4.5 years of treatment, Eliglustat was well tolerated and resulted to clinically substantial improvements in previously untreated individuals with Gaucher disease type 1.

GAUCHER

Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review

2020-09-28

The importance of glucosylsphingosine (lyso-Gb1) was assessed in this systematic literature review, as a biomarker for the diagnosis, prognosis, and disease / treatment monitoring of patients with GD. Lyso-Gb1 was found to be a statistically reliable diagnostic and pharmacodynamic biomarker in GD. Although some evidence supports lyso-Gb1 as a disease-monitoring and prognostic biomarker, further study is required.

GAUCHER

Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial

2019-01-01

Eliglustat is first-line oral therapy for adults with Gaucher disease type 1 (GD1). GD1 patients using this therapy for eight years were studied and their patients observed clinically significant improvements in all measures, with the most significant improvements being noted in the most severely affected patients.

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