Two New Mutations Linked to Gaucher Type 1 Identified in Indian Study
Researchers have found two new mutations associated with Gaucher disease type 1 (GD1) in four Indian adults. The researchers also reported, for the first ... Read more
Updates
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Gaucher Type 1 Patient Diagnosed with Rare Corticobasal Syndrome, Study Reports
A patient with type 1 Gaucher disease (GD1) was diagnosed with corticobasal syndrome, a rare condition that causes some of the same symptoms seen in Parkinson’s ... Read more -
Case Study Reports Abnormal Brain Changes in 3 Children with Gaucher Disease
Three pediatric cases of Gaucher disease (GD) with unprecedented brain magnetic resonance imaging (MRI) changes mainly affecting the thalamus and/or dentate nucleus were recently ... Read more -
#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach
With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from ... Read more -
Case Report on 3 Relatives Stresses Importance of Early Diagnosis and ERT in Gaucher Disease
A case report on three family members with Gaucher disease (GD) underlines the importance of early diagnosis and treatment with enzyme replacement therapy (ERT) to ... Read more
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Children with Type 1 Gaucher Disease Show Changes in Motor and Sensory Brain Networks, Study Finds
Motor and sensory-related brain networks do not work efficiently in children with type 1 ... -
Cerdelga May Be a Cost-saving Treatment Option for Gaucher Type 1, Study Finds
Switching patients with Gaucher disease type 1 (GD1) from enzyme replacement therapy (ERT) to ... -
Cerdelga Continuously Provides Long-term Benefits for Gaucher Patients, Study Shows
Long-term treatment with Cerdelga (eliglustat), a substrate reduction therapy for Gaucher disease type 1, ... -
Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments
Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced ... -
Worsening of Untreated Retinal Detachment in Boy with Gaucher Type 3 Described in Case Report
A new case report describes a 14-year old boy diagnosed with Gaucher disease (GD) type ...
ERT Infusion Sessions Could Be Cut from 1 Hour to 10 Minutes, Gaucher Research Shows
News
Reducing infusion time of Vpriv (velaglucerase alfa) enzyme replacement therapy (ERT) in patients with type 1 Gaucher disease from one hour to 10 minutes may be possible using a time-reducing protocol. Developed by a team led by Ari Zimran, ... Read more