Rare Diseases

Current bibliography for experts

GAUCHER

Gaucher Disease is a lipid storage disorder which could occur in every age. The disease affect many parts of the body and more than 380 mutations in the GBA gene have been identified in patients with Gaucher Disease.

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

Gaucher disease: Identification and novel variants in Mexican and Spanish patients

2021-06-13

Because molecular diagnosis has a high predictive value in GD, it's crucial to look into the genotype-phenotype correlations and determine the severity of the variant.

GAUCHER

SARS-CoV-2 infection and COVID‒19 in Gaucher disease: indications for vaccination

2021-06-13

We review here the current concepts of Gaucher disease and SARS-CoV-2 infection, focusing particularly on general prevention and vaccination.

GAUCHER

Interstitial lung disease in lysosomal storage disorders

2021-04-29

Early diagnosis for lysosomal storage diseases (LSDs) is crucial to prevent irreversible organ damage. Early initiation of enzyme replacement therapy (ERT) can, at least in part, prevent organ failure.

GAUCHER

Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study

2021-04-06

If left untreated, Gaucher disease is a rare disease with a high mortality rate. Due to its one-time intervention and low cost, HSCT may be a more appropriate definitive treatment option in resource-constrained areas like India, where the neuronopathic form is more prevalent, assuming similar efficacy to ERT.

GAUCHER

Skeletal Involvement in Gaucher Disease: Extent of Bone Disease, Splenic Volume, and Quality of Life

2021-03-01

In Gaucher patients, the possible correlations between the extent of bone involvement, splenic volume, and quality of life were investigated. No correlation was found between the BMB and quality of life scores, this finding highlights Gaucher disease's insidious and silent progression.

GAUCHER

GRAF score: A composite risk score for assessing adult fracture risk in imiglucerase‑treated Gaucher disease type 1 patients

2021-02-18

The aim of this study was to create a risk score assessment GRAF as a clinical tool for determining risk for future fractures beyond standard risk factors that change with time and treatment in Gaucher disease type 1 patients. The GRAF score can be used to inform clinicians about the potential fracture risk after starting imiglucerase or other alternative ERTs.

GAUCHER

Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment

2021-02-01

This study reports hematologic, visceral, bone pain, bone crisis, height, weight, and BMI outcomes in patients treated for 20 (±3) years with subset analyses based on pre-treatment severity, genotype, and age at treatment initiation. As a result, imiglucerase is found as an effective, long-term treatment for GD1. Improvements seen during early treatment years are sustained by continuing treatment for 20 years, except for bone pain in non-splenectomized patients.

XLSD

Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants

2021-01-27

The study's goal was to determine the prevalence of the three treatable types of lysosomal storage disorders (Gaucher disease [GD], Pompe disease [PD], and Fabry disease [FD]) in a cohort of primarily urban-dwelling Africans, a previously unexplored genetic environment for LSDs.

GAUCHER

Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York

2021-01-01

The aim of this study was to evaluate the determinants of SARS CoV-2 infection in Gaucher disease (GD) patients. The findings indicated that, despite the chronic inflammatory state in these patients, GD does not increase the risk of serious effects of SARS-CoV-2 infection.

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

Endocrine and metabolic disorders in patients with Gaucher disease type 1: A review

2019-12-02

Gaucher disease (GD) is associated to a variety of hormonal and metabolic abnormalities, like nutritional problems, glucose metabolism disorders, and vitamin D deficiency. In order to improve healthcare for GD1 patients, it is necessary to actively search for and diagnose endocrine and metabolic disorders.

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