News

February 1, 2018February 1, 2018

Some GD Type 1 Patients May Benefit from ERT-SRT Therapy Combo, Case Report Shows

News

The combination of enzyme replacement therapy (ERT) and Zavesca (miglustat) substrate reduction therapy (SRT) for a limited period improved disease symptoms in two women with Gaucher disease type 1 (GD1), ... Read more

January 30, 2018January 30, 2018

NORD Fundraiser Sets 7,000-Mile ‘Bike, Run or Walk’ Goal for 7,000 Rare Diseases

News

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 ... Read more

January 25, 2018

Ambroxol May Have Multiple Effects on Neurons in Gaucher, Parkinson’s Diseases

News

Ambroxol — a chest congestion and cough medicine that’s being investigated for the treatment of Gaucher disease — has several molecular mechanisms in addition to acting as an enhancer of the enzyme that’s ... Read more

January 23, 2018

Brazilian Researchers Establish Nursing Diagnosis Guidelines for Gaucher Disease

News

Researchers in Brazil identified a set of signs and symptoms of Gaucher disease to help establish a priority nursing diagnosis for the disease. This allows nurses to distinguish the rare ... Read more

January 18, 2018January 18, 2018

Researchers Identify New Therapeutic Target for Gaucher-Linked Bone Disease

News

Patients with Gaucher disease (GD) frequently develop bone disease, but the mechanisms underlying bone damage remain unknown. New research points to developmental defects and impaired secretion in the cells responsible ... Read more

January 16, 2018

Survey May Help Understand Clinical Features of Gaucher Disease Type 3

News

Using 26 patients gleaned from an international Gaucher disease (GD) registry, researchers have identified common characteristics of Gaucher disease type 3. The long-term follow-up of these patients should help identify treatment ... Read more

January 9, 2018

Altered Iron Metabolism Linked to Excess Ferritin Levels in GD, Study Finds

News

Abnormal iron metabolism is associated with excess ferritin in the blood of Gaucher disease (GD) patients, new research from France suggests. The study, “Involvement of hepcidin in iron metabolism dysregulation ... Read more

December 19, 2017

Coexisting Gaucher and Thalassemia May Complicate Diagnosis, Case Study Suggests

News

Thalassemia — a condition caused by a lack of hemoglobin in red blood cells — might be present in patients with Gaucher disease, making a diagnosis difficult, a case study suggests. The ... Read more

December 14, 2017

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 ... Read more

December 12, 2017

Cerdelga Seen to Improve Hemoglobin, Platelet Levels in Gaucher Type 1 Adults, Trials Show

News

Treatment with Cerdelga (eliglustat) leads to clinically meaningful long-term improvements in hemoglobin and platelet levels in patients with Gaucher disease type 1 (GD1), data from long-term Phase 2 and Phase ... Read more