Posts by: Alice Melao

News

Prevail Therapeutics and Lonza Pharma & Biotech will collaborate in the development and production of Prevail’s PR001 gene therapy for children with type 2 Gaucher disease and for select patients with Parkinson’s disease, ... Read more

October 21, 2019

‘Collodion’ Skin Disorder in Newborn Early Sign of Severe Perinatal Type 2 Gaucher, Case Study Suggests

News

Infants who are born encased in a tight and shiny membrane made of skin cells that resembles plastic wrap, and commonly called “collodion babies,” may have severe perinatal (fetal) Gaucher ... Read more

October 8, 2019October 17, 2019

Screening for Multiple Myeloma and Other Blood Cell Disorders May Be Useful with Gaucher, Study Says

News

Gaucher disease is not common in people with a group of disorders called plasma cell dyscrasias (PCDs), which include multiple myeloma. But screening for these disorders among Gaucher patients could be ... Read more

August 22, 2019

Cerezyme ‘Dramatically’ Eased Severe Liver and Lung Problems in Gaucher Patient, Case Study Reports

News

Treatment with Cerezyme (imiglucerase), Sanofi Genzyme‘s enzyme replacement therapy, can effectively reverse severe pulmonary and liver complications triggered by Gaucher disease, a case report suggests. The study “Reversal of life-threatening ... Read more

April 1, 2019

Gaucher-induced Spine Lesion Triggers Neurological Symptoms in Type 1 Disease, Case Report Says

News

Patients with Gaucher disease type 1 may experience a complication involving the lower portion of the spinal cord, known as cauda equina syndrome, which causes long-term spine instability and neurodeficits if ... Read more

February 19, 2019

Elelyso Safe for Use While Breastfeeding, Case Study Finds

News

Elelyso (taliglucerase alfa) is safe for use by breastfeeding women with Gaucher disease, not representing a risk to the child, a case report shows. Researchers recommend this treatment can be ... Read more

December 11, 2018

Case of Chinese Adolescent with Gaucher Disease Highlights Importance of Early Diagnosis, Treatment

News

Early and accurate diagnosis of Gaucher disease can prevent poor outcome in children and adolescents affected by the rare illness, a new case report from China suggests. The case was ... Read more

November 20, 2018

New GBA Mutation Causing Gaucher Type 3 with Progressive Epilepsy Described in Case Report

News

A newly identified mutation in the GBA gene causes errors in gene processing that trigger the development of Gaucher disease type 3 with progressive myoclonus epilepsy, a case report describes. The study, ... Read more

October 2, 2018

AVROBIO Advances AVR-RD-02 Gene Therapy into Gaucher Disease Phase 1/2 Trial in Canada

News

AVROBIO is advancing its gene therapy for Gaucher disease, AVR-RD-02, into a Phase 1/2 clinical trial after Health Canada raised no objections to its clinical trial application, the company announced. The trial ... Read more

July 24, 2018

New GBA Mutation Found, Linked to Gaucher Type 1 in Japanese Patient, Case Report Reveals

News

A new mutation on the DNA coding sequence of the beta-glucocerebrosidase enzyme was identified and linked to Gaucher disease (GD) type 1 in a Japanese patient, according to a case ... Read more